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.K213E

c.637A>G

Surrounding Variants

1 paper

NM_004612.4

p.K213R

c.638A>G

2 papers

NM_004612.4

p.G212D

c.635G>A

1 paper

NM_004612.4

p.G212V

c.635G>T

4 papers

NM_004612.4

p.G214S

c.640G>A

1 paper

NM_004612.4

p.G212S

c.634G>A

1 paper

NM_004612.4

p.G212R

c.634G>C

2 papers

NM_004612.4

p.R215*

c.643C>T

2 papers

NM_004612.4

p.R215P

c.644G>C

2 papers

NM_004612.4

p.F216Y

c.647T>A

2 papers

NM_004612.4

p.F216S

c.647T>C

2 papers

NM_004612.4

p.G217R

c.649G>A

2 papers

NM_004612.4

p.G217R

c.649G>C