Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.K48R

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.K48R
c.143A>G
Surrounding Variants
1 paper
NM_005359.6
p.K48*
c.142A>T
1 paper
NM_005359.6
p.K48K
c.144G>A
4 papers
NM_005359.6
p.E49K
c.145G>A
1 paper
NM_005359.6
p.L47L
c.141G>A
1 paper
NM_005359.6
p.K48_E49insFs
c.144_145ins5
1 paper
NM_005359.6
p.E49fs
c.145_146fs
4 papers
NM_005359.6
p.E49*
c.145G>T
3 papers
NM_005359.6
p.K48delFs
c.142_143delAA
1 paper
NM_005359.6
p.K48_K51del0
c.144_152del9
5 papers
NM_005359.6
p.E49V
c.146A>T
1 paper
NM_005359.6
p.L47P
c.140T>C
1 paper
NM_005359.6
p.L47V
c.139C>G
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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."