Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.P313delFs

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
6 papers
NM_005359.6
p.P313delFs
c.939delC
Surrounding Variants
2 papers
NM_005359.6
p.P313S
c.937C>T
1 paper
NM_005359.6
p.P312L
c.935C>T
1 paper
NM_005359.6
p.P312S
c.934C>T
1 paper
NM_005359.6
p.P313L
c.938C>T
1 paper
NM_005359.6
p.I314insFs
c.940_941ins7
1 paper
NM_005359.6
p.Q311H
c.933G>C
1 paper
NM_005359.6
p.Q311H
c.933G>T
2 papers
NM_005359.6
p.I314fs
c.940_941fs
1 paper
NM_005359.6
p.I314insFs
c.941dupT
1 paper
NM_005359.6
p.I314V
c.940A>G
1 paper
NM_005359.6
p.Q311L
c.932A>T
1 paper
NM_005359.6
p.I314delFs
c.941_942delTT
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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."