Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.V335fs

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
1 paper
NM_005359.6
p.V335fs
c.1003_1004fs
Surrounding Variants
2 papers
NM_005359.6
p.V335I
c.1003G>A
1 paper
NM_005359.6
p.V335Fs
c.1003delinsGAFs
1 paper
NM_005359.6
p.Q334H
c.1002G>C
1 paper
NM_005359.6
p.Q334H
c.1002G>T
3 papers
NM_005359.6
p.V335V
c.1005A>G
2 papers
NM_005359.6
p.Q334R
c.1001A>G
15 papers
NM_005359.6
p.Q334*
c.1000C>T
3 papers
NM_005359.6
p.G336R
c.1006G>A
3 papers
NM_005359.6
p.G336R
c.1006G>C
1 paper
NM_005359.6
p.G336*
c.1006G>T
1 paper
NM_005359.6
p.G336insFs
c.1007_1008insA
1 paper
NM_005359.6
p.Q334delFs
c.1000delC
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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."