Varaico: Literature-Extracted Genetic Variants

Gene:SMAD9
Variant:p.N259S

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.N259S
c.776A>G
Surrounding Variants
1 paper
NM_001127217.3
p.G260*
c.778G>T
1 paper
NM_001127217.3
p.D261Splc
c.781+2T>A
1 paper
NM_001127217.3
p.S256L
c.767C>T
1 paper
NM_001127217.3
p.S256T
c.766T>A
1 paper
NM_001127217.3
p.L255I
c.763C>A
1 paper
NM_001127217.3
p.H252H
c.756T>C
1 paper
NM_001127217.3
p.A249V
c.746C>T
4 papers
NM_001127217.3
p.T248K
c.743C>A
1 paper
NM_001127217.3
p.A236S
c.706G>T
1 paper
NM_001127217.3
p.P228delFs
c.683delG
1 paper
NM_001127217.3
p.T226R
c.677C>G
1 paper
NM_001127217.3
p.R263*
c.787C>T
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