Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.L484L

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.L484L
c.1450C>T
Surrounding Variants
1 paper
NM_005359.6
p.L484L
c.1452G>C
1 paper
NM_005359.6
p.L484_S485insFs
c.1452_1453insA
1 paper
NM_005359.6
p.S483insFs
c.1448_1449ins4
2 papers
NM_005359.6
p.S483Splc
c.1448-1G>A
1 paper
NM_005359.6
p.S485fs
c.1453_1454fs
2 papers
NM_005359.6
p.S485*
c.1454C>A
2 papers
NM_005359.6
p.S485*
c.1454C>G
1 paper
NM_005359.6
p.S485L
c.1454C>T
1 paper
NM_005359.6
p.A486_V492del7
c.1456_1475del21
1 paper
NM_005359.6
p.A486fs
c.1456_1457fs
7 papers
NM_005359.6
p.S483Splc
c.1448-6T>C
1 paper
NM_005359.6
p.A486A
c.1458T>C
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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."