Varaico: Literature-Extracted Genetic Variants

Gene:SMAD9

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
1–12 of 149 variants
13 papers
NM_001127217.3
p.K43E
c.127A>G
12 papers
NM_001127217.3
p.R294*
c.880C>T
11 papers
NM_001127217.3
p.C202*
c.606C>A
6 papers
NM_001127217.3
p.L22P
c.65T>C
4 papers
NM_001127217.3
p.V90M
c.268G>A
4 papers
NM_001127217.3
p.T248K
c.743C>A
3 papers
NM_001127217.3
p.P145Q
c.434C>A
3 papers
NM_001127217.3
p.A163T
c.487G>A
2 papers
NM_001127217.3
p.M1I
c.3G>C
2 papers
NM_001127217.3
p.Q26*
c.76C>T
2 papers
NM_001127217.3
p.E30K
c.88G>A
2 papers
NM_001127217.3
p.R84H
c.251G>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."