Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.V506fs

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.V506fs
c.1516_1517fs
Surrounding Variants
3 papers
NM_005359.6
p.V506M
c.1516G>A
1 paper
NM_005359.6
p.V506_D512delFs
c.1517_1536del20
1 paper
NM_005359.6
p.V506E
c.1517T>A
3 papers
NM_005359.6
p.V506A
c.1517T>C
1 paper
NM_005359.6
p.F505Y
c.1514T>A
2 papers
NM_005359.6
p.F505S
c.1514T>C
1 paper
NM_005359.6
p.F505_V506delins
c.1514_1516delinsAAA
5 papers
NM_005359.6
p.K507Q
c.1519A>C
3 papers
NM_005359.6
p.K507E
c.1519A>G
1 paper
NM_005359.6
p.K507*
c.1519A>T
3 papers
NM_005359.6
p.K507R
c.1520A>G
1 paper
NM_005359.6
p.K507I
c.1520A>T
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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."