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.R465K

c.1394G>A

Surrounding Variants

1 paper

NM_004612.4

p.R465T

c.1394G>C

1 paper

NM_004612.4

p.A463D

c.1388C>A

1 paper

NM_004612.4

p.M467K

c.1400T>A

1 paper

NM_004612.4

p.A463S

c.1387G>T

1 paper

NM_004612.4

p.I470T

c.1409T>C

1 paper

NM_004612.4

p.M471insFs

c.1411_1412insT

1 paper

NM_004612.4

p.R472*

c.1414A>T

1 paper

NM_004612.4

p.R472T

c.1415G>C

1 paper

NM_004612.4

p.C474S

c.1420T>A

1 paper

NM_004612.4

p.C474R

c.1420T>C

2 papers

NM_001130916.3

p.C397Y

c.1190G>A

NM_004612.4

p.C474Y

c.1421G>A

1 paper

NM_004612.4

p.C474S

c.1421G>C