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

6 papers

NM_004612.4

p.D266G

c.797A>G

Surrounding Variants

3 papers

NM_004612.4

p.D266A

c.797A>C

1 paper

NM_004612.4

p.D266E

c.798C>A

1 paper

NM_004612.4

p.D266E

c.798C>G

1 paper

NM_004612.4

p.D266Y

c.796G>T

3 papers

NM_004612.4

p.N267H

c.799A>C

1 paper

NM_004612.4

p.N267D

c.799A>G

1 paper

NM_004612.4

p.A265S

c.793G>T

3 papers

NM_004612.4

p.N267N

c.801T>C

2 papers

NM_004612.4

p.A264T

c.790G>A

1 paper

NM_004612.4

p.D269A

c.806A>C

2 papers

NM_004612.4

p.D269Splc

c.805+1G>A

1 paper

NM_004612.4

p.F262F

c.786T>C