TGFBR2

Tumor Suppressor
Also known as TBR-ii, TBRII, MFS2
TGFBR2 encodes a receptor kinase that signals to downstream effectors in the TGFß signaling pathway. TGFBR2 is infrequently mutated in cancer; however, germline mutations in this gene are associated with Marfan syndrome and Loeys-Dietz syndrome.
Show TGFBR2 background
NCBI Gene7048
Ensembl GeneENSG00000163513 (GRCh37/GRCh38)
Location
Chr3:30647994-30735634 (GRCh37)
Chr3:30606601-30694142 (GRCh38)
Ensembl TranscriptENST00000295754 (GRCh37/GRCh38)
RefSeq
NM_003242.5(GRCh37)
NM_003242.6(GRCh38)
Annotated Mutations in MSK-IMPACT™ Clinical Sequencing Cohort (Zehir et al., Nat Med 2017)
A list of the oncogenic and mutation effects of all OncoKB™ curated TGFBR2 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
D379G
Likely Oncogenic
Loss-of-function
V419L
Likely Oncogenic
Likely Loss-of-function
P525L
Likely Oncogenic
Loss-of-function
E526Q
Likely Oncogenic
Loss-of-function
R537P
Likely Oncogenic
Likely Gain-of-function
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