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

2 papers

NM_004612.4

p.M390_F393delFs

c.1170_1179del10

Surrounding Variants

1 paper

NM_004612.4

p.M390T

c.1169T>C

2 papers

NM_004612.4

p.N389T

c.1166A>C

1 paper

NM_004612.4

p.N389S

c.1166A>G

1 paper

NM_004612.4

p.K391R

c.1172A>G

1 paper

NM_004612.4

p.N389insFs

c.1165dupA

7 papers

NM_004612.4

p.S387Y

c.1160C>A

1 paper

NM_004612.4

p.S387T

c.1159T>A

1 paper

NM_004612.4

p.D385E

c.1155T>A

1 paper

NM_004612.4

p.D385E

c.1155T>G

1 paper

NM_004612.4

p.D385N

c.1153G>A

1 paper

NM_004612.4

p.S395P

c.1183T>C

1 paper

NM_004612.4

p.F396V

c.1186T>G