Varaico: Literature-Extracted Genetic Variants

Gene:ATP9A
Variant:p.R281W

ATP9A

85 papers

Pfam Domains

PhoLip_ATPase_Naa 41–106UCSCPhospholipid-translocating ATPase N-terminal
E1-E2_ATPaseaa 133–283UCSCP-type ATPase actuator domain
Hydrolaseaa 574–797UCSChaloacid dehalogenase-like hydrolase
PhoLip_ATPase_Caa 811–1040UCSCPhospholipid-translocating P-type ATPase C-terminal

Gene Aliases

HGNC Name

ATPase phospholipid transporting 9A (putative)

HGNC Alias Symbols

KIAA0611; ATPIIA

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006045.3
p.R281W
c.841C>T
Surrounding Variants
1 paper
NM_006045.3
p.R281G
c.841C>G
1 paper
NM_006045.3
p.N285K
c.855T>A
1 paper
NM_006045.3
p.T276A
c.826A>G
1 paper
NM_006045.3
p.P289T
c.865C>A
1 paper
NM_006045.3
p.P289H
c.866C>A
1 paper
NM_006045.3
p.V272G
c.815T>G
4 papers
NM_006045.3
p.R290*
c.868C>T
1 paper
NM_006045.3
p.G271G
c.813T>C
3 papers
NM_006045.3
p.R290Q
c.869G>A
2 papers
NM_006045.3
p.I293I
c.879C>T
1 paper
NM_006045.3
p.L303V
c.907C>G
1 paper
NM_006045.3
p.L311V
c.931C>G
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