Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.I518I

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.I518I
c.1554C>T
Surrounding Variants
1 paper
NM_005359.6
p.I518M
c.1554C>G
1 paper
NM_005359.6
p.K519E
c.1555A>G
1 paper
NM_005359.6
p.I518N
c.1553T>A
1 paper
NM_005359.6
p.K519R
c.1556A>G
1 paper
NM_005359.6
p.K519I
c.1556A>T
2 papers
NM_005359.6
p.E520K
c.1558G>A
1 paper
NM_005359.6
p.S517T
c.1550G>C
1 paper
NM_005359.6
p.E520fs
c.1558_1559fs
12 papers
NM_005359.6
p.E520*
c.1558G>T
1 paper
NM_005359.6
p.S517I
c.1550G>T
1 paper
NM_005359.6
p.T521delFs
c.1561delA
9 papers
NM_005359.6
p.S517fs
c.1549_1550fs
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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."