Varaico: Literature-Extracted Genetic Variants

Gene:SMAD9
Variant:p.P145Q

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
3 papers
NM_001127217.3
p.P145Q
c.434C>A
Surrounding Variants
1 paper
NM_001127217.3
p.P145L
c.434C>T
2 papers
NM_001127217.3
p.H147Y
c.439C>T
1 paper
NM_001127217.3
p.Y150C
c.449A>G
2 papers
NM_001127217.3
p.A158delFs
c.473delG
1 paper
NM_001127217.3
p.A163P
c.487G>C
3 papers
NM_001127217.3
p.A163T
c.487G>A
1 paper
NM_001127217.3
p.P169S
c.505C>T
1 paper
NM_001127217.3
p.A163_L170delFs
c.489_510del22
1 paper
NM_001127217.3
p.S167_N174delFs
c.499_520del22
1 paper
NM_001127217.3
p.T176I
c.527C>T
1 paper
NM_001127217.3
p.P185S
c.553C>T
1 paper
NM_001127217.3
p.H195H
c.585C>T
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