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.R240C

c.718C>T

Surrounding Variants

1 paper

NM_004612.4

p.R240H

c.719G>A

4 papers

NM_004612.4

p.E239K

c.715G>A

2 papers

NM_004612.4

p.E239*

c.715G>T

1 paper

NM_004612.4

p.S241P

c.721T>C

1 paper

NM_004612.4

p.S241A

c.721T>G

25 papers

NM_004612.4

p.S241L

c.722C>T

1 paper

NM_004612.4

p.E238_R240delins

c.713_718delinsCTT

1 paper

NM_004612.4

p.W242R

c.724T>A

1 paper

NM_004612.4

p.W242R

c.724T>C

3 papers

NM_004612.4

p.W242*

c.725G>A

1 paper

NM_004612.4

p.W242L

c.725G>T

3 papers

NM_004612.4

p.W242*

c.726G>A