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.V58I

c.172G>A

Surrounding Variants

1 paper

NM_004612.4

p.S57C

c.170C>G

1 paper

NM_004612.4

p.S57F

c.170C>T

1 paper

NM_004612.4

p.T62P

c.184A>C

1 paper

NM_004612.4

p.T62K

c.185C>A

1 paper

NM_004612.4

p.T62insFs

c.185_186insA

1 paper

NM_004612.4

p.C54_V56del3

c.160_167del9

1 paper

NM_004612.4

p.L53delFs

c.157_158delCT

1 paper

NM_004612.4

p.G52_C54delins

c.155_162delinsGCACA

1 paper

NM_004612.4

p.G52V

c.155G>T

1 paper

NM_004612.4

p.K64*

c.190A>T

7 papers

NM_004612.4

p.G52R

c.154G>A

7 papers

NM_004612.4

p.G52R

c.154G>C