Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.P342L

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
2 papers
NM_005359.6
p.P342L
c.1025C>T
Surrounding Variants
2 papers
NM_005359.6
p.P342H
c.1025C>A
1 paper
NM_005359.6
p.S343delFs
c.1027delT
6 papers
NM_005359.6
p.P342S
c.1024C>T
1 paper
NM_005359.6
p.S343P
c.1027T>C
1 paper
NM_005359.6
p.V341V
c.1023T>G
1 paper
NM_005359.6
p.S343A
c.1027T>G
1 paper
NM_005359.6
p.S343fs
c.1027_1028fs
21 papers
NM_005359.6
p.S343*
c.1028C>A
23 papers
NM_005359.6
p.S343*
c.1028C>G
3 papers
NM_005359.6
p.S343L
c.1028C>T
1 paper
NM_005359.6
p.V341A
c.1022T>C
2 papers
NM_005359.6
p.V341I
c.1021G>A
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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."