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

15 papers

NM_004612.4

p.G312S

c.934G>A

Surrounding Variants

2 papers

NM_004612.4

p.G312D

c.935G>A

2 papers

NM_004612.4

p.G312V

c.935G>T

1 paper

NM_004612.4

p.L313V

c.937C>G

1 paper

NM_004612.4

p.L313P

c.938T>C

2 papers

NM_004612.4

p.A310V

c.929C>T

1 paper

NM_004612.4

p.A310S

c.928G>T

1 paper

NM_004612.4

p.A314S

c.940G>T

1 paper

NM_004612.4

p.T309T

c.927G>C

2 papers

NM_001130916.3

p.T232M

c.695C>T

NM_004612.4

p.T309M

c.926C>T

1 paper

NM_004612.4

p.H315insFs

c.944_945ins17

4 papers

NM_004612.4

p.H315R

c.944A>G

1 paper

NM_004612.4

p.H315L

c.944A>T