Varaico: Literature-Extracted Genetic Variants

Gene:SMAD9
Variant:p.H105D

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.H105D
c.313C>G
Surrounding Variants
1 paper
NM_001127217.3
p.P109L
c.326C>T
1 paper
NM_001127217.3
p.P99L
c.296C>T
1 paper
NM_001127217.3
p.P99A
c.295C>G
2 papers
NM_001127217.3
p.V95M
c.283G>A
1 paper
NM_001127217.3
p.R94R
c.282C>A
1 paper
NM_001127217.3
p.R94H
c.281G>A
1 paper
NM_001127217.3
p.F115insFs
c.344dupT
1 paper
NM_001127217.3
p.P116S
c.346C>T
1 paper
NM_001127217.3
p.P116P
c.348A>G
1 paper
NM_001127217.3
p.C93_R94insT
c.277_281ins3
1 paper
NM_001127217.3
p.F117V
c.349T>G
4 papers
NM_001127217.3
p.V90M
c.268G>A
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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."