Varaico: Literature-Extracted Genetic Variants

Gene:SMAD7
Variant:p.E40A

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.E40A
c.119A>C
Surrounding Variants
7 papers
NM_005904.4
p.G39R
c.115G>C
8 papers
NM_005904.4
p.G39R
c.115G>A
1 paper
NM_005904.4
p.A42E
c.125C>A
1 paper
NM_005904.4
p.E36_T43insFs
c.107_128dup22
1 paper
NM_005904.4
p.E36E
c.108G>A
1 paper
NM_005904.4
p.G34V
c.101G>T
1 paper
NM_005904.4
p.R46Q
c.137G>A
3 papers
NM_005904.4
p.G49G
c.147G>A
1 paper
NM_005904.4
p.A28_G30delFs
c.83_89del7
3 papers
NM_005904.4
p.A28V
c.83C>T
1 paper
NM_005904.4
p.G54G
c.162C>T
1 paper
NM_005904.4
p.R57K
c.170G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."