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.C41R

c.121T>C

Surrounding Variants

1 paper

NM_004612.4

p.C41G

c.121T>G

1 paper

NM_004612.4

p.L40L

c.120C>T

4 papers

NM_004612.4

p.C41Y

c.122G>A

1 paper

NM_004612.4

p.L40F

c.118C>T

1 paper

NM_004612.4

p.H39Y

c.115C>T

1 paper

NM_004612.4

p.K43R

c.128A>G

1 paper

NM_004612.4

p.C38_H39insFs

c.114_115insA

1 paper

NM_004612.4

p.C38Y

c.113G>A

1 paper

NM_004612.4

p.D44G

c.131A>G

1 paper

NM_004612.4

p.F37S

c.110T>C

10 papers

NM_004612.4

p.N45S

c.134A>G

1 paper

NM_004612.4

p.C36Y

c.107G>A