Varaico: Literature-Extracted Genetic Variants

Gene:ATP9A
Variant:p.I343T

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.I343T
c.1028T>C
Surrounding Variants
1 paper
NM_006045.3
p.I343I
c.1029C>T
1 paper
NM_006045.3
p.I342I
c.1026C>T
1 paper
NM_006045.3
p.L338F
c.1014G>T
1 paper
NM_006045.3
p.L338F
c.1014G>C
1 paper
NM_006045.3
p.R334C
c.1000C>T
1 paper
NM_006045.3
p.I332M
c.996C>G
2 papers
NM_006045.3
p.W328*
c.984G>A
2 papers
NM_006045.3
p.W328*
c.983G>A
1 paper
NM_006045.3
p.V319L
c.955G>C
1 paper
NM_006045.3
p.V314A
c.941T>C
1 paper
NM_006045.3
p.L311V
c.931C>G
1 paper
NM_006045.3
p.L303V
c.907C>G
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