Varaico: Literature-Extracted Genetic Variants

Gene:SMAD9
Variant:p.H331R

SMAD9

157 papers

RefSeq Summary

The protein encoded by this gene is a member of the SMAD family, which transduces signals from TGF-beta family members. The encoded protein is activated by bone morphogenetic proteins and interacts wi...

Pfam Domains

MH1aa 34–135UCSCMH1 domain
MH2aa 271–443UCSCMH2 domain

Gene Aliases

HGNC Name

SMAD family member 9

HGNC Previous Symbols

MADH6; MADH9

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001127217.3
p.H331R
c.992A>G
Surrounding Variants
1 paper
NM_001127217.3
p.G335Fs
c.1003delinsGAFs
1 paper
NM_001127217.3
p.T324M
c.971C>T
2 papers
NM_005905.6
p.R284*
c.850A>T
NM_001127217.3
p.R321*
c.961A>T
1 paper
NM_001127217.3
p.N306T
c.917A>C
1 paper
NM_001127217.3
p.D303N
c.907G>A
1 paper
NM_001127217.3
p.F301L
c.901T>C
12 papers
NM_001127217.3
p.R294*
c.880C>T
1 paper
NM_001127217.3
p.Q290delFs
c.868delG
2 papers
NM_005905.6
p.R247*
c.739C>T
NM_001127217.3
p.R284*
c.850C>T
1 paper
NM_001127217.3
p.V276V
c.828C>T
1 paper
NM_001127217.3
p.S275insFs
c.823dupT
1 paper
NM_001127217.3
p.P270insFs
c.810dupC
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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."