Varaico: Literature-Extracted Genetic Variants

Gene:SMAD9
Variant:p.H208Q

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.H208Q
c.624C>A
Surrounding Variants
1 paper
NM_001127217.3
p.H208D
c.622C>G
1 paper
NM_001127217.3
p.P207A
c.619C>G
2 papers
NM_001127217.3
p.P213S
c.637C>T
1 paper
NM_001127217.3
p.A204P
c.610G>C
11 papers
NM_001127217.3
p.C202*
c.606C>A
1 paper
NM_001127217.3
p.C202F
c.605G>T
1 paper
NM_001127217.3
p.S214del1
c.640_641delAGA
1 paper
NM_001127217.3
p.F197_P201delFs
c.590_602del13
1 paper
NM_001127217.3
p.P201L
c.602C>T
1 paper
NM_001127217.3
p.S214_E215del2
c.640_644del6
2 papers
NM_001127217.3
p.Q199L
c.596A>T
1 paper
NM_001127217.3
p.F197Y
c.590T>A
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