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.T272A

c.814A>G

Surrounding Variants

2 papers

NM_004612.4

p.G271D

c.812G>A

1 paper

NM_004612.4

p.G271fs

c.811_812fs

1 paper

NM_004612.4

p.G271delFs

c.812delG

1 paper

NM_004612.4

p.N270S

c.809A>G

1 paper

NM_004612.4

p.T274A

c.820A>G

2 papers

NM_004612.4

p.N270fs

c.808_809fs

1 paper

NM_004612.4

p.N270_L276del7

c.808_827del21

1 paper

NM_004612.4

p.Q275*

c.823C>T

8 papers

NM_004612.4

p.D269Splc

c.806-2A>C

1 paper

NM_004612.4

p.Q275R

c.824A>G

2 papers

NM_004612.4

p.L276P

c.827T>C

1 paper

NM_004612.4

p.W277C

c.831G>C