Varaico: Literature-Extracted Genetic Variants

Gene:SMAD9
Variant:p.P16P

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.P16P
c.48C>T
Surrounding Variants
1 paper
NM_001127217.3
p.S12_F13del1
c.35_37delAGG
1 paper
NM_001127217.3
p.R20G
c.58A>G
6 papers
NM_001127217.3
p.L22P
c.65T>C
1 paper
NM_001127217.3
p.L10P
c.29T>C
2 papers
NM_001127217.3
p.Q26*
c.76C>T
1 paper
NM_001127217.3
p.T4T
c.12C>T
2 papers
NM_001127217.3
p.E30K
c.88G>A
1 paper
NM_001127217.3
p.M1I
c.3G>T
1 paper
NM_001127217.3
p.M1insFs
c.2dupT
1 paper
NM_001127217.3
p.M1_H2insFs
c.3_4insA
2 papers
NM_001127217.3
p.M1I
c.3G>C
1 paper
NM_001127217.3
p.M1I
c.3G>A
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