Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.A451fs

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.A451fs
c.1351_1352fs
Surrounding Variants
1 paper
NM_005359.6
p.A451Fs
c.1352delinsACFs
2 papers
NM_005359.6
p.A451E
c.1352C>A
2 papers
NM_005359.6
p.A451V
c.1352C>T
1 paper
NM_005359.6
p.A451_A459delFs
c.1353_1377del25
3 papers
NM_005359.6
p.Q450Q
c.1350G>A
1 paper
NM_005359.6
p.A451_T453delFs
c.1351_1357del7
5 papers
NM_005359.6
p.Q450*
c.1348C>T
1 paper
NM_005359.6
p.Q450fs
c.1348_1349fs
5 papers
NM_005359.6
p.A452T
c.1354G>A
2 papers
NM_005359.6
p.A452fs
c.1354_1355fs
1 paper
NM_005359.6
p.A452fs
c.1354_1355fs
1 paper
NM_005359.6
p.A452A
c.1356T>C
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