Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.M4I

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
30 papers
NM_005359.6
p.M4I
c.12G>C
Surrounding Variants
23 papers
NM_005359.6
p.M4I
c.12G>A
1 paper
NM_005359.6
p.M4T
c.11T>C
1 paper
NM_005359.6
p.M4insFs
c.10_11insAC
1 paper
NM_005359.6
p.M4V
c.10A>G
3 papers
NM_005359.6
p.S5C
c.14C>G
1 paper
NM_005359.6
p.S5F
c.14C>T
1 paper
NM_005359.6
p.N3K
c.9T>G
1 paper
NM_005359.6
p.N3_M4delFs
c.9_12del4
1 paper
NM_005359.6
p.M4_I19del16
c.10_56del48
1 paper
NM_005359.6
p.N3insFs
c.7_8ins4
3 papers
NM_005359.6
p.N3D
c.7A>G
1 paper
NM_005359.6
p.M4delFs
c.10_11delAT
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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."