Varaico: Literature-Extracted Genetic Variants

Gene:SMAD1

SMAD1

251 papers

RefSeq Summary

The protein encoded by this gene belongs to the SMAD, a family of proteins similar to the gene products of the Drosophila gene 'mothers against decapentaplegic' (Mad) and the C. elegans gene Sma. SMAD...

Pfam Domains

MH1aa 30–131UCSCMH1 domain
MH2aa 269–441UCSCMH2 domain

Gene Aliases

HGNC Name

SMAD family member 1

HGNC Previous Symbol

MADH1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 165 variants
6 papers
NM_005900.3
p.V3A
c.8T>C
3 papers
NM_005900.3
p.P460S
c.1378C>T
2 papers
NM_005900.3
p.T4I
c.11C>T
2 papers
NM_005900.3
p.F9Fs
c.27delinsGTAAAGFs
2 papers
NM_005900.3
p.V14M
c.40G>A
2 papers
NM_005900.3
p.G23A
c.68G>C
2 papers
NM_005900.3
p.R69H
c.206G>A
2 papers
NM_005900.3
p.Q98*
c.292C>T
2 papers
NM_005900.3
p.Q117*
c.349C>T
2 papers
NM_005900.3
p.Y192C
c.575A>G
2 papers
NM_005900.3
p.S206A
c.616T>G
2 papers
NM_005900.3
p.F216Y
c.647T>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."