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.E228K

c.682G>A

Surrounding Variants

1 paper

NM_004612.4

p.E228delFs

c.682delG

2 papers

NM_004612.4

p.E227V

c.680A>T

3 papers

NM_004612.4

p.E227K

c.679G>A

12 papers

NM_004612.4

p.G226_E227del1

c.678_680delAGA

8 papers

NM_004612.4

p.A230T

c.688G>A

NM_001130916.3

p.A153T

c.457G>A

1 paper

NM_004612.4

p.G226R

c.676G>A

1 paper

NM_004612.4

p.G226R

c.676G>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

1 paper

NM_004612.4

p.G226_E227del2

c.676_680del6