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.Y99C

c.296A>G

Surrounding Variants

1 paper

NM_004612.4

p.C100S

c.298T>A

1 paper

NM_004612.4

p.C101_Q103delFs

c.301_307del7

1 paper

NM_004612.4

p.T98fs

c.292_293fs

1 paper

NM_004612.4

p.C100_C101insFs

c.300_301ins7

2 papers

NM_004612.4

p.C101R

c.301T>C

1 paper

NM_004612.4

p.T97_T98insGA

c.289_293ins6

2 papers

NM_004612.4

p.N102D

c.304A>G

1 paper

NM_004612.4

p.T96I

c.287C>T

1 paper

NM_004612.4

p.T96P

c.286A>C

1 paper

NM_004612.4

p.T96S

c.286A>T

2 papers

NM_004612.4

p.V95A

c.284T>C

1 paper

NM_004612.4

p.D104Y

c.310G>T