Varaico: Literature-Extracted Genetic Variants

Gene:SMAD7

SMAD7

197 papers

RefSeq Summary

The protein encoded by this gene is a nuclear protein that binds the E3 ubiquitin ligase SMURF2. Upon binding, this complex translocates to the cytoplasm, where it interacts with TGF-beta receptor typ...

Pfam Domains

MH1aa 92–202UCSCMH1 domain
MH1aa 92–202UCSCMH1 domain
MH2aa 259–424UCSCMH2 domain

Gene Aliases

HGNC Name

SMAD family member 7

HGNC Previous Symbols

MADH8; MADH7

Papers
RefSeq ID
Protein change
DNA change
1–12 of 131 variants
8 papers
NM_005904.4
p.G39R
c.115G>A
7 papers
NM_005904.4
p.G39R
c.115G>C
5 papers
NM_005904.4
p.P208delFs
c.624delG
4 papers
NM_005904.4
p.P209fs
c.625_626fs
3 papers
NM_005904.4
p.A28V
c.83C>T
3 papers
NM_005904.4
p.G49G
c.147G>A
3 papers
NM_005904.4
p.L155P
c.464T>C
3 papers
NM_005904.4
p.G320V
c.959G>T
2 papers
NM_005904.4
p.K64R
c.191A>G
2 papers
NM_005904.4
p.K70R
c.209A>G
2 papers
NM_005904.4
p.P75L
c.224C>T
2 papers
NM_005904.4
p.R131C
c.391C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."