Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.D2N

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.D2N
c.4G>A
Surrounding Variants
1 paper
NM_005359.6
p.D2ins8
c.5_6ins24
1 paper
NM_005359.6
p.D2insFs
c.4_5insT
3 papers
NM_005359.6
p.D2Y
c.4G>T
1 paper
NM_005359.6
p.D2G
c.5A>G
4 papers
NM_005359.6
p.M1I
c.3G>A
3 papers
NM_005359.6
p.M1I
c.3G>C
1 paper
NM_005359.6
p.M1_D2insFs
c.3_4insA
1 paper
NM_005359.6
p.M1_D2ins12
c.3_4ins36
3 papers
NM_005359.6
p.M1I
c.3G>T
1 paper
NM_005359.6
p.D2_T7delFs
c.4_19del16
1 paper
NM_005359.6
p.D2E
c.6C>A
1 paper
NM_005359.6
p.D2E
c.6C>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."