Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.S517I

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.S517I
c.1550G>T
Surrounding Variants
1 paper
NM_005359.6
p.S517T
c.1550G>C
9 papers
NM_005359.6
p.S517fs
c.1549_1550fs
2 papers
NM_005359.6
p.S517fs
c.1549_1550fs
1 paper
NM_005359.6
p.S517_I518delFs
c.1550_1553del4
1 paper
NM_005359.6
p.S517_I527del11
c.1549_1580del33
1 paper
NM_005359.6
p.Q516R
c.1547A>G
1 paper
NM_005359.6
p.I518N
c.1553T>A
3 papers
NM_005359.6
p.Q516_S517insFs
c.1547_1550dup4
1 paper
NM_005359.6
p.I518M
c.1554C>G
2 papers
NM_005359.6
p.Q516*
c.1546C>T
1 paper
NM_005359.6
p.I518I
c.1554C>T
1 paper
NM_005359.6
p.S517delFs
c.1549_1550delAG
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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."