Varaico: Literature-Extracted Genetic Variants

Gene:SMAD3
Variant:p.F269L

SMAD3

777 papers

RefSeq Summary

The SMAD family of proteins are a group of intracellular signal transducer proteins similar to the gene products of the Drosophila gene 'mothers against decapentaplegic' (Mad) and the C. elegans gene ...

Pfam Domains

MH1aa 31–131UCSCMH1 domain
MH2aa 230–401UCSCMH2 domain

Gene Aliases

HGNC Name

SMAD family member 3

HGNC Previous Symbol

MADH3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_005902.4
p.F269L
c.805T>C
Surrounding Variants
3 papers
NM_005902.4
p.F269L
c.807C>A
3 papers
NM_005902.4
p.F269L
c.807C>G
1 paper
NM_005902.4
p.C270_N276del7
c.808_827del21
12 papers
NM_005902.4
p.R268H
c.803G>A
3 papers
NM_005902.4
p.R268L
c.803G>T
20 papers
NM_005902.4
p.R268C
c.802C>T
1 paper
NM_005902.4
p.E267A
c.800A>C
1 paper
NM_005902.4
p.C270W
c.810C>G
1 paper
NM_005902.4
p.L271L
c.811C>T
1 paper
NM_005902.4
p.S266*
c.797C>A
4 papers
NM_005902.4
p.S266L
c.797C>T
4 papers
NM_005902.4
p.G272R
c.814G>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."