Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.I500T

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
51 papers
NM_005359.6
p.I500T
c.1499T>C
Surrounding Variants
2 papers
NM_005359.6
p.I500K
c.1499T>A
2 papers
NM_005359.6
p.I500R
c.1499T>G
8 papers
NM_005359.6
p.I500L
c.1498A>C
89 papers
NM_005359.6
p.I500V
c.1498A>G
28 papers
NM_005359.6
p.I500M
c.1500A>G
8 papers
NM_005359.6
p.I500L
c.1498A>T
1 paper
NM_005359.6
p.I500fs
c.1498_1499fs
2 papers
NM_005359.6
p.C499*
c.1497C>A
1 paper
NM_005359.6
p.C499W
c.1497C>G
2 papers
NM_005359.6
p.L501F
c.1501C>T
1 paper
NM_005359.6
p.C499C
c.1497C>T
1 paper
NM_005359.6
p.I500delFs
c.1498delA
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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."