Varaico: Literature-Extracted Genetic Variants

TGFBR1

763 papers

RefSeq Summary

The protein encoded by this gene forms a heteromeric complex with type II TGF-beta receptors when bound to TGF-beta, transducing the TGF-beta signal from the cell surface to the cytoplasm. The encoded...

Pfam Domains

Activin_recpaa 1–44UCSCActivin types I and II receptor domain

Activin_recpaa 33–113UCSCActivin types I and II receptor domain

TGF_beta_GSaa 107–134UCSCTransforming growth factor beta type I GS-motif

Pkinaseaa 136–423UCSCProtein kinase domain

Gene Aliases

HGNC Name

transforming growth factor beta receptor 1

HGNC Previous Symbols

MSSE; ESS1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004612.4

p.K232T

c.695A>C

Surrounding Variants

17 papers

NM_004612.4

p.K232R

c.695A>G

3 papers

NM_004612.4

p.K232E

c.694A>G

3 papers

NM_004612.4

p.K232N

c.696G>C

4 papers

NM_004612.4

p.K232N

c.696G>T

1 paper

NM_004612.4

p.I233_F234insGG

c.697_701ins6

1 paper

NM_004612.4

p.V231_I233delins

c.693_699delinsC

1 paper

NM_004612.4

p.V231fs

c.691_692fs

6 papers

NM_004612.4

p.F234L

c.700T>C

1 paper

NM_004612.4

p.A230D

c.689C>A

1 paper

NM_004612.4

p.A230V

c.689C>T

1 paper

NM_004612.4

p.A230_V231del1

c.690_692delTGT

1 paper

NM_004612.4

p.V231_F234delFs

c.691_700del10