Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.Q448fs

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
2 papers
NM_005359.6
p.Q448fs
c.1342_1343fs
Surrounding Variants
8 papers
NM_005359.6
p.Q448fs
c.1342_1343fs
8 papers
NM_005359.6
p.Q448*
c.1342C>T
1 paper
NM_005359.6
p.Q448_Q455delFs
c.1343_1365del23
1 paper
NM_005359.6
p.A451_A459insFs
c.1351_1375dup25
1 paper
NM_005359.6
p.Q448R
c.1343A>G
1 paper
NM_005359.6
p.Q448_Q450delFs
c.1344_1350del7
3 papers
NM_005359.6
p.A451_A459delFs
c.1351_1375del25
1 paper
NM_005359.6
p.Q448Q
c.1344G>A
1 paper
NM_005359.6
p.M447K
c.1340T>A
1 paper
NM_005359.6
p.M447R
c.1340T>G
9 papers
NM_005359.6
p.Q448_A456delFs
c.1343_1367del25
2 papers
NM_005359.6
p.M447fs
c.1339_1340fs
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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."