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.S496T

c.1487G>C

Surrounding Variants

1 paper

NM_004612.4

p.S496R

c.1486A>C

1 paper

NM_004612.4

p.S496fs

c.1486_1487fs

2 papers

NM_004612.4

p.S496R

c.1488T>A

1 paper

NM_004612.4

p.S496R

c.1488T>G

1 paper

NM_004612.4

p.S496insFs

c.1486dupA

2 papers

NM_004612.4

p.Q497*

c.1489C>T

4 papers

NM_004612.4

p.L495F

c.1483C>T

1 paper

NM_004612.4

p.E499*

c.1495G>T

1 paper

NM_004612.4

p.S493*

c.1478C>A

2 papers

NM_004612.4

p.G500A

c.1499G>C

1 paper

NM_004612.4

p.L492*

c.1475T>A

1 paper

NM_004612.4

p.L492*

c.1475T>G