HNF1A

Tumor Suppressor
Also known as HNF1, LFB1, TCF1, MODY3
HNF1A, a transcription factor, is altered by mutation in various cancer types. Germline mutations of HNF1A are associated with Maturity Onset Diabetes of Young (MODY3) and hepatic adenomas familial (HEPAF), while somatic inactivating mutations are found in a diverse range of cancers.
Show HNF1A background
NCBI Gene6927
Ensembl GeneENSG00000135100 (GRCh37/GRCh38)
Location
Chr12:121416346-121440315 (GRCh37)
Chr12:120978543-121002512 (GRCh38)
Ensembl TranscriptENST00000257555 (GRCh37/GRCh38)
RefSeqNM_000545.5 (GRCh37/GRCh38)
Annotated Mutations in MSK-IMPACT™ Clinical Sequencing Cohort (Zehir et al., Nat Med 2017)
Cancer Types with HNF1A Mutations
Endometrial CancerColorectal CancerBone CancerSkin Cancer, Non-MelanomaHead and Neck CancerSoft Tissue SarcomaBladder CancerBreast CancerNon-Small Cell Lung Cancer% altered0.501.01.502.0
A list of the oncogenic and mutation effects of all OncoKB™ curated HNF1A alterations.
If you notice any mistakes or omissions, please reach out to us.
Alteration
Oncogenic
Mutation Effect
Description
Deletion
Likely Oncogenic
Likely Loss-of-function
Truncating Mutations
Likely Oncogenic
Likely Loss-of-function
I27L
Inconclusive
Inconclusive
T196A
Likely Neutral
Neutral
P291Qfs*51
Likely Oncogenic
Likely Loss-of-function
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