Varaico: Literature-Extracted Genetic Variants

Gene:SMAD9
Variant:p.H83R

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.H83R
c.248A>G
Surrounding Variants
2 papers
NM_001127217.3
p.R84H
c.251G>A
1 paper
NM_001127217.3
p.V81V
c.243G>A
1 paper
NM_001127217.3
p.R78W
c.232C>T
4 papers
NM_001127217.3
p.V90M
c.268G>A
1 paper
NM_001127217.3
p.D76D
c.228C>T
1 paper
NM_001127217.3
p.C93_R94insT
c.277_281ins3
1 paper
NM_001127217.3
p.P72delFs
c.214_215delGG
1 paper
NM_001127217.3
p.R94H
c.281G>A
1 paper
NM_001127217.3
p.R94R
c.282C>A
2 papers
NM_001127217.3
p.V95M
c.283G>A
1 paper
NM_001127217.3
p.C68F
c.203G>T
1 paper
NM_001127217.3
p.C68Y
c.203G>A
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