Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.A375fs

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.A375fs
c.1123_1124fs
Surrounding Variants
1 paper
NM_005359.6
p.A375delFs
c.1125delC
1 paper
NM_005359.6
p.A375insFs
c.1124_1125insAG
1 paper
NM_005359.6
p.A375V
c.1124C>T
1 paper
NM_005359.6
p.A375A
c.1125C>T
2 papers
NM_005359.6
p.I376V
c.1126A>G
1 paper
NM_005359.6
p.I376fs
c.1126_1127fs
2 papers
NM_005359.6
p.E374K
c.1120G>A
2 papers
NM_005359.6
p.E374*
c.1120G>T
2 papers
NM_005359.6
p.T373I
c.1118C>T
1 paper
NM_005359.6
p.I376M
c.1128T>G
1 paper
NM_005359.6
p.T373_E374insAT
c.1117_1121ins6
1 paper
NM_005359.6
p.R378fs
c.1132_1133fs
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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."