Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.F408_V409del1

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.F408_V409del1
c.1223_1225delTTG
Surrounding Variants
1 paper
NM_005359.6
p.F408I
c.1222T>A
1 paper
NM_005359.6
p.F408L
c.1222T>C
1 paper
NM_005359.6
p.F408V
c.1222T>G
1 paper
NM_005359.6
p.F408fs
c.1222_1223fs
1 paper
NM_005359.6
p.V407V
c.1221C>A
3 papers
NM_005359.6
p.F408S
c.1223T>C
1 paper
NM_005359.6
p.F408L
c.1224T>A
1 paper
NM_005359.6
p.F408L
c.1224T>G
1 paper
NM_005359.6
p.V407_F408insFs
c.1221_1222insC
1 paper
NM_005359.6
p.V407I
c.1219G>A
1 paper
NM_005359.6
p.V409I
c.1225G>A
1 paper
NM_005359.6
p.V407L
c.1219G>C
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