Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.P303P

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.P303P
c.909T>A
Surrounding Variants
1 paper
NM_005359.6
p.P303P
c.909T>C
1 paper
NM_005359.6
p.P303S
c.907C>T
2 papers
NM_005359.6
p.V304A
c.911T>C
5 papers
NM_005359.6
p.W302*
c.906G>A
1 paper
NM_005359.6
p.W302C
c.906G>T
1 paper
NM_005359.6
p.H305N
c.913C>A
1 paper
NM_005359.6
p.H305Y
c.913C>T
1 paper
NM_005359.6
p.H305fs
c.913_914fs
1 paper
NM_005359.6
p.H305L
c.914A>T
1 paper
NM_005359.6
p.W302Splc
c.905-1G>A
1 paper
NM_005359.6
p.W302Splc
c.905-1G>C
1 paper
NM_005359.6
p.N306fs
c.916_917fs
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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."