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

1–12 of 745 variants

33 papers

NM_004612.4

p.M318R

c.953T>G

30 papers

NM_004612.4

p.R487Q

c.1460G>A

25 papers

NM_004612.4

p.S241L

c.722C>T

25 papers

NM_004612.4

p.R487W

c.1459C>T

17 papers

NM_004612.4

p.K232R

c.695A>G

16 papers

NM_004612.4

p.N478S

c.1433A>G

15 papers

NM_004612.4

p.G312S

c.934G>A

13 papers

NM_004612.4

p.T200I

c.599C>T

12 papers

NM_004612.4

p.G226_E227del1

c.678_680delAGA

11 papers

NM_004612.4

p.D400G

c.1199A>G

10 papers

NM_004612.4

p.N45S

c.134A>G

10 papers

NM_004612.4

p.P83L

c.248C>T