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

7 papers

NM_004612.4

p.R80*

c.238C>T

Surrounding Variants

1 paper

NM_004612.4

p.R80insFs

c.238_239insG

2 papers

NM_004612.4

p.R80Q

c.239G>A

1 paper

NM_004612.4

p.R80P

c.239G>C

1 paper

NM_004612.4

p.R80L

c.239G>T

1 paper

NM_004612.4

p.P79S

c.235C>T

1 paper

NM_004612.4

p.I78T

c.233T>C

1 paper

NM_004612.4

p.I78insFs

c.233_234insGG

1 paper

NM_004612.4

p.I78F

c.232A>T

1 paper

NM_004612.4

p.P83S

c.247C>T

10 papers

NM_004612.4

p.P83L

c.248C>T

1 paper

NM_004612.4

p.D76delFs

c.226_227delGA

1 paper

NM_004612.4

p.V85I

c.253G>A