Varaico: Literature-Extracted Genetic Variants

Gene:ATP9A
Variant:p.A214V

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.A214V
c.641C>T
Surrounding Variants
3 papers
NM_006045.3
p.A214_D215Splc
c.642+1G>A
1 paper
NM_006045.3
p.P211L
c.632C>T
1 paper
NM_006045.3
p.R209K
c.626G>A
1 paper
NM_006045.3
p.T207S
c.619A>T
1 paper
NM_006045.3
p.V204E
c.611T>A
1 paper
NM_006045.3
p.V204M
c.610G>A
1 paper
NM_006045.3
p.K199N
c.597G>T
1 paper
NM_006045.3
p.K199N
c.597G>C
1 paper
NM_006045.3
p.W198*
c.594G>A
1 paper
NM_006045.3
p.W198*
c.593G>A
2 papers
NM_006045.3
p.S184fs
c.550_551fs
1 paper
NM_006045.3
p.K181N
c.543A>T
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