Varaico: Literature-Extracted Genetic Variants

Gene:SMAD7
Variant:p.A142A

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
Selected Variant
1 paper
NM_005904.4
p.A142A
c.426C>T
Surrounding Variants
1 paper
NM_005904.4
p.G143S
c.427G>A
1 paper
NM_005904.4
p.P141A
c.421C>G
1 paper
NM_005904.4
p.G137A
c.410G>C
1 paper
NM_005904.4
p.G137S
c.409G>A
1 paper
NM_005904.4
p.L136M
c.406C>A
1 paper
NM_005904.4
p.R135G
c.403A>G
2 papers
NM_005904.4
p.R131C
c.391C>T
3 papers
NM_005904.4
p.L155P
c.464T>C
1 paper
NM_005904.4
p.P156H
c.467C>A
1 paper
NM_005904.4
p.L126F
c.376C>T
1 paper
NM_005904.4
p.C160*
c.480C>A
1 paper
NM_005904.4
p.V162insFs
c.484_485insT
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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."