Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.D537H

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
16 papers
NM_005359.6
p.D537H
c.1609G>C
Surrounding Variants
21 papers
NM_005359.6
p.D537Y
c.1609G>T
3 papers
NM_005359.6
p.D537fs
c.1609_1610fs
1 paper
NM_005359.6
p.E538_T542delFs
c.1612_1625del14
3 papers
NM_005359.6
p.D537A
c.1610A>C
19 papers
NM_005359.6
p.D537G
c.1610A>G
6 papers
NM_005359.6
p.D537V
c.1610A>T
1 paper
NM_005359.6
p.D537_E538delins
c.1610_1612delinsCCT
1 paper
NM_005359.6
p.D537del1
c.1609_1610delGAC
1 paper
NM_005359.6
p.D537_E538delFs
c.1609_1612del4
17 papers
NM_005359.6
p.D537E
c.1611C>A
1 paper
NM_005359.6
p.E538insFs
c.1612dupG
17 papers
NM_005359.6
p.D537E
c.1611C>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."