Varaico: Literature-Extracted Genetic Variants

Gene:ATP9A
Variant:p.F81C

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.F81C
c.242T>G
Surrounding Variants
1 paper
NM_006045.3
p.F77I
c.229T>A
1 paper
NM_006045.3
p.Q76E
c.226C>G
1 paper
NM_006045.3
p.L73V
c.217C>G
1 paper
NM_006045.3
p.V72M
c.214G>A
1 paper
NM_006045.3
p.E96K
c.286G>A
1 paper
NM_006045.3
p.G100V
c.299G>T
1 paper
NM_006045.3
p.Y103C
c.308A>G
1 paper
NM_006045.3
p.Y105C
c.314A>G
1 paper
NM_006045.3
p.Y105*
c.315C>A
1 paper
NM_006045.3
p.W106C
c.318G>C
1 paper
NM_006045.3
p.L109L
c.327G>A
2 papers
NM_006045.3
p.L109_G110Splc
c.327+1G>T
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