Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.M1Fs

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
1 paper
NM_005359.6
p.M1Fs
c.2delinsAAFs
Surrounding Variants
3 papers
NM_005359.6
p.M1T
c.2T>C
1 paper
NM_005359.6
p.M1R
c.2T>G
1 paper
NM_005359.6
p.M1delins
c.3delinsTTTTAGATCCATATTTTAG
1 paper
NM_005359.6
p.M1insFs
c.1_2insG
2 papers
NM_005359.6
p.M1fs
c.1_2fs
3 papers
NM_005359.6
p.M1insFs
c.2dupT
3 papers
NM_005359.6
p.M1L
c.1A>C
2 papers
NM_005359.6
p.M1V
c.1A>G
2 papers
NM_005359.6
p.M1L
c.1A>T
1 paper
NM_005359.6
p.M1delFs
c.2delT
4 papers
NM_005359.6
p.M1I
c.3G>A
3 papers
NM_005359.6
p.M1I
c.3G>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."