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.D281N

c.841G>A

Surrounding Variants

1 paper

NM_004612.4

p.D281H

c.841G>C

1 paper

NM_004612.4

p.D281_Y282insFs

c.843_844insC

3 papers

NM_004612.4

p.Y282H

c.844T>C

1 paper

NM_004612.4

p.S280A

c.838T>G

1 paper

NM_004612.4

p.Y282D

c.844T>G

1 paper

NM_004612.4

p.Y282fs

c.844_845fs

1 paper

NM_004612.4

p.H283D

c.847C>G

1 paper

NM_004612.4

p.H283P

c.848A>C

2 papers

NM_004612.4

p.H283R

c.848A>G

1 paper

NM_004612.4

p.L278S

c.833T>C

1 paper

NM_004612.4

p.L278L

c.832T>C

1 paper

NM_004612.4

p.W277C

c.831G>C