Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.L23S

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.L23S
c.68T>C
Surrounding Variants
1 paper
NM_005359.6
p.L23L
c.69G>A
1 paper
NM_005359.6
p.L23L
c.67T>C
6 papers
NM_005359.6
p.M24V
c.70A>G
1 paper
NM_005359.6
p.S22R
c.66T>G
1 paper
NM_005359.6
p.L23del1
c.67_68delTTG
1 paper
NM_005359.6
p.S22N
c.65G>A
1 paper
NM_005359.6
p.M24T
c.71T>C
1 paper
NM_005359.6
p.H21P
c.62A>C
3 papers
NM_005359.6
p.C25Y
c.74G>A
1 paper
NM_005359.6
p.C25S
c.74G>C
1 paper
NM_005359.6
p.H21insFs
c.62dupA
1 paper
NM_005359.6
p.C25_H26insFs
c.75_76insA
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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."