Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.P130_H132delFs

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.P130_H132delFs
c.389_396del8
Surrounding Variants
5 papers
NM_005359.6
p.N129K
c.387T>A
1 paper
NM_005359.6
p.N129N
c.387T>C
5 papers
NM_005359.6
p.N129K
c.387T>G
3 papers
NM_005359.6
p.N129T
c.386A>C
1 paper
NM_005359.6
p.N129S
c.386A>G
2 papers
NM_005359.6
p.P130T
c.388C>A
1 paper
NM_005359.6
p.P130A
c.388C>G
22 papers
NM_005359.6
p.P130S
c.388C>T
3 papers
NM_005359.6
p.N129D
c.385A>G
1 paper
NM_005359.6
p.N129Y
c.385A>T
5 papers
NM_005359.6
p.P130L
c.389C>T
1 paper
NM_005359.6
p.P130_Y131delFs
c.390_391delAT
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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."