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.G261A

c.782G>C

Surrounding Variants

1 paper

NM_004612.4

p.G261E

c.782G>A

1 paper

NM_004612.4

p.G261*

c.781G>T

1 paper

NM_004612.4

p.G261_F262del2

c.781_785del6

1 paper

NM_004612.4

p.F262F

c.786T>C

2 papers

NM_004612.4

p.A264T

c.790G>A

1 paper

NM_004612.4

p.A265S

c.793G>T

1 paper

NM_004612.4

p.E257K

c.769G>A

1 paper

NM_004612.4

p.D266Y

c.796G>T

3 papers

NM_004612.4

p.D266A

c.797A>C

6 papers

NM_004612.4

p.D266G

c.797A>G

1 paper

NM_004612.4

p.H256R

c.767A>G

1 paper

NM_004612.4

p.D266E

c.798C>A