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.L406L

c.1216T>C

Surrounding Variants

4 papers

NM_004612.4

p.L406I

c.1216T>A

2 papers

NM_004612.4

p.V407L

c.1219G>C

2 papers

NM_004612.4

p.V407L

c.1219G>T

1 paper

NM_004612.4

p.M404T

c.1211T>C

1 paper

NM_004612.4

p.M404V

c.1210A>G

2 papers

NM_004612.4

p.F408L

c.1222T>C

3 papers

NM_004612.4

p.F408L

c.1224C>A

2 papers

NM_004612.4

p.F408L

c.1224C>G

1 paper

NM_004612.4

p.A403G

c.1208C>G

2 papers

NM_004612.4

p.A403V

c.1208C>T

1 paper

NM_004612.4

p.W409G

c.1225T>G

1 paper

NM_004612.4

p.W409*

c.1226G>A