Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.Q455*

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
8 papers
NM_005359.6
p.Q455*
c.1363C>T
Surrounding Variants
3 papers
NM_005359.6
p.Q455K
c.1363C>A
1 paper
NM_005359.6
p.Q455P
c.1364A>C
1 paper
NM_005359.6
p.Q455Q
c.1365A>G
2 papers
NM_005359.6
p.A454T
c.1360G>A
1 paper
NM_005359.6
p.A456P
c.1366G>C
1 paper
NM_005359.6
p.A454_Q455insC
c.1360_1364ins3
1 paper
NM_005359.6
p.A454fs
c.1360_1361fs
1 paper
NM_005359.6
p.A454_Q455delFs
c.1361_1364del4
1 paper
NM_005359.6
p.A456V
c.1367C>T
2 papers
NM_005359.6
p.T453I
c.1358C>T
1 paper
NM_005359.6
p.A457_V465del9
c.1369_1394del27
4 papers
NM_005359.6
p.T453fs
c.1357_1358fs
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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."