Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.L121*

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.L121*
c.362T>G
Surrounding Variants
3 papers
NM_005359.6
p.L121*
c.362T>A
7 papers
NM_005359.6
p.L121_K122insFs
c.363_364insA
1 paper
NM_005359.6
p.L121_S125delFs
c.363_373del11
1 paper
NM_005359.6
p.L121fs
c.361_362fs
1 paper
NM_005359.6
p.L121fs
c.361_362fs
1 paper
NM_005359.6
p.K122*
c.364A>T
1 paper
NM_005359.6
p.K122fs
c.364_365fs
1 paper
NM_005359.6
p.K122T
c.365A>C
3 papers
NM_005359.6
p.K122R
c.365A>G
1 paper
NM_005359.6
p.D120G
c.359A>G
1 paper
NM_005359.6
p.K122K
c.366A>G
2 papers
NM_005359.6
p.D120N
c.358G>A
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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."