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

16 papers

NM_004612.4

p.N478S

c.1433A>G

Surrounding Variants

1 paper

NM_004612.4

p.N478I

c.1433A>T

1 paper

NM_004612.4

p.G479R

c.1435G>A

1 paper

NM_004612.4

p.G479R

c.1435G>C

1 paper

NM_004612.4

p.G479V

c.1436G>T

1 paper

NM_004612.4

p.A477delFs

c.1429delG

1 paper

NM_004612.4

p.Y476H

c.1426T>C

1 paper

NM_004612.4

p.Y476D

c.1426T>G

1 paper

NM_004612.4

p.W475*

c.1425G>A

2 papers

NM_004612.4

p.W475C

c.1425G>C

4 papers

NM_004612.4

p.W475C

c.1425G>T

1 paper

NM_004612.4

p.W475*

c.1424G>A

1 paper

NM_004612.4

p.W475S

c.1424G>C