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.Y378C

c.1133A>G

Surrounding Variants

1 paper

NM_004612.4

p.Y378*

c.1134C>A

1 paper

NM_004612.4

p.M379insFs

c.1135_1136insA

1 paper

NM_004612.4

p.Y378*

c.1134C>G

1 paper

NM_004612.4

p.Y378Y

c.1134C>T

1 paper

NM_004612.4

p.Y378fs

c.1132_1133fs

4 papers

NM_004612.4

p.M379V

c.1135A>G

2 papers

NM_004612.4

p.M379T

c.1136T>C

1 paper

NM_004612.4

p.A380P

c.1138G>C

1 paper

NM_004612.4

p.A380S

c.1138G>T

1 paper

NM_004612.4

p.A380G

c.1139C>G

1 paper

NM_004612.4

p.P381S

c.1141C>T

1 paper

NM_004612.4

p.V383I

c.1147G>A