Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.V20M

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.V20M
c.58G>A
Surrounding Variants
1 paper
NM_005359.6
p.V20insFs
c.59dupT
1 paper
NM_005359.6
p.V20E
c.59T>A
1 paper
NM_005359.6
p.V20V
c.60G>A
1 paper
NM_005359.6
p.I19_S22del0
c.57_65del9
1 paper
NM_005359.6
p.H21insFs
c.62dupA
1 paper
NM_005359.6
p.H21D
c.61C>G
1 paper
NM_005359.6
p.H21fs
c.61_62fs
1 paper
NM_005359.6
p.H21P
c.62A>C
1 paper
NM_005359.6
p.S18R
c.54C>A
1 paper
NM_005359.6
p.S22N
c.65G>A
1 paper
NM_005359.6
p.L17_S18insFs
c.51_52insA
1 paper
NM_005359.6
p.S22R
c.66T>G
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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."