Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.I525V

SMAD4

2,432 papers

RefSeq Summary

This gene encodes a member of the Smad family of signal transduction proteins. Smad proteins are phosphorylated and activated by transmembrane serine-threonine receptor kinases in response to transfor...

Pfam Domains

MH1aa 36–137UCSCMH1 domain
MH2aa 321–530UCSCMH2 domain

Gene Aliases

HGNC Name

SMAD family member 4

HGNC Previous Symbol

MADH4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
24 papers
NM_005359.6
p.I525V
c.1573A>G
Surrounding Variants
9 papers
NM_005359.6
p.W524*
c.1572G>A
29 papers
NM_005359.6
p.W524C
c.1572G>C
30 papers
NM_005359.6
p.W524C
c.1572G>T
9 papers
NM_005359.6
p.W524*
c.1571G>A
3 papers
NM_005359.6
p.W524S
c.1571G>C
9 papers
NM_005359.6
p.W524L
c.1571G>T
7 papers
NM_005359.6
p.E526K
c.1576G>A
4 papers
NM_005359.6
p.E526Q
c.1576G>C
14 papers
NM_005359.6
p.E526*
c.1576G>T
2 papers
NM_005359.6
p.I527delFs
c.1579delA
8 papers
NM_005359.6
p.W524R
c.1570T>A
8 papers
NM_005359.6
p.W524R
c.1570T>C
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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."