Varaico: Literature-Extracted Genetic Variants

Gene:SMAD9
Variant:p.K46*

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.K46*
c.136A>T
Surrounding Variants
1 paper
NM_001127217.3
p.K36_K43insFs
c.107_128dup22
13 papers
NM_001127217.3
p.K43E
c.127A>G
1 paper
NM_001127217.3
p.K49K
c.147G>A
1 paper
NM_001127217.3
p.M52V
c.154A>G
1 paper
NM_001127217.3
p.W33*
c.99G>A
1 paper
NM_001127217.3
p.A58V
c.173C>T
1 paper
NM_001127217.3
p.W33*
c.98G>A
1 paper
NM_001127217.3
p.E31_K32insFs
c.93_94insT
2 papers
NM_001127217.3
p.E30K
c.88G>A
1 paper
NM_001127217.3
p.P62L
c.185C>T
1 paper
NM_001127217.3
p.P65S
c.193C>T
2 papers
NM_001127217.3
p.Q26*
c.76C>T
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