Varaico: Literature-Extracted Genetic Variants

Gene:ATP9A
Variant:p.G146Splc

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.G146Splc
c.436+2T>C
Surrounding Variants
1 paper
NM_006045.3
p.R145Q
c.434G>A
3 papers
NM_006045.3
p.R145*
c.433C>T
1 paper
NM_006045.3
p.L142F
c.424C>T
1 paper
NM_006045.3
p.Q137L
c.410A>T
1 paper
NM_006045.3
p.K132M
c.395A>T
1 paper
NM_006045.3
p.E124*
c.370G>T
1 paper
NM_006045.3
p.E123D
c.369G>T
1 paper
NM_006045.3
p.E123D
c.369G>C
1 paper
NM_006045.3
p.V122E
c.365T>A
1 paper
NM_006045.3
p.A121V
c.362C>T
1 paper
NM_006045.3
p.A121T
c.361G>A
1 paper
NM_006045.3
p.A114S
c.340G>T
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