Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.G89*

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
4 papers
NM_005359.6
p.G89*
c.265G>T
Surrounding Variants
1 paper
NM_005359.6
p.G89fs
c.265_266fs
1 paper
NM_005359.6
p.G89fs
c.265_266fs
1 paper
NM_005359.6
p.G89_F90delFs
c.266_269del4
5 papers
NM_005359.6
p.K88R
c.263A>G
1 paper
NM_005359.6
p.K88_A96insFs
c.263_287dup25
1 paper
NM_005359.6
p.K88E
c.262A>G
1 paper
NM_005359.6
p.K88*
c.262A>T
2 papers
NM_005359.6
p.K88fs
c.262_263fs
1 paper
NM_005359.6
p.F90_H92delFs
c.270_276del7
1 paper
NM_005359.6
p.R87R
c.261G>A
1 paper
NM_005359.6
p.R87Q
c.260G>A
1 paper
NM_005359.6
p.R87_K88delFs
c.261_262delGA
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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."