Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.Q366_L367insA

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.Q366_L367insA
c.1096_1100ins3
Surrounding Variants
3 papers
NM_005359.6
p.Q366K
c.1096C>A
1 paper
NM_005359.6
p.Q366fs
c.1096_1097fs
3 papers
NM_005359.6
p.Q366E
c.1096C>G
17 papers
NM_005359.6
p.Q366*
c.1096C>T
1 paper
NM_005359.6
p.Q366L
c.1097A>T
1 paper
NM_005359.6
p.Q366_H371del0
c.1098_1112del15
1 paper
NM_005359.6
p.S368delFs
c.1102_1103delTC
14 papers
NM_005359.6
p.G365D
c.1094G>A
1 paper
NM_005359.6
p.G365A
c.1094G>C
2 papers
NM_005359.6
p.G365V
c.1094G>T
1 paper
NM_005359.6
p.L367I
c.1099C>A
1 paper
NM_005359.6
p.L367F
c.1099C>T
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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."