Varaico: Literature-Extracted Genetic Variants

Gene:SMAD9
Variant:p.P270insFs

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.P270insFs
c.810dupC
Surrounding Variants
1 paper
NM_001127217.3
p.Q271*
c.811C>T
1 paper
NM_001127217.3
p.Y267Y
c.801C>T
1 paper
NM_001127217.3
p.Y267*
c.801C>G
1 paper
NM_001127217.3
p.Y267*
c.801C>A
1 paper
NM_001127217.3
p.S275insFs
c.823dupT
1 paper
NM_001127217.3
p.V276V
c.828C>T
1 paper
NM_001127217.3
p.V265F
c.793G>T
1 paper
NM_001127217.3
p.P264T
c.790C>A
1 paper
NM_001127217.3
p.R263insFs
c.788dupG
3 papers
NM_005905.6
p.R226Q
c.677G>A
NM_001127217.3
p.R263Q
c.788G>A
1 paper
NM_001127217.3
p.R263*
c.787C>T
2 papers
NM_005905.6
p.R247*
c.739C>T
NM_001127217.3
p.R284*
c.850C>T
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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."