Varaico: Literature-Extracted Genetic Variants

Gene:ATP9A
Variant:p.T240S

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.T240S
c.718A>T
Surrounding Variants
1 paper
NM_006045.3
p.I232fs
c.694_695fs
1 paper
NM_006045.3
p.E226D
c.678A>T
1 paper
NM_006045.3
p.E226D
c.678A>C
1 paper
NM_006045.3
p.A225V
c.674C>T
2 papers
NM_006045.3
p.S221L
c.662C>T
1 paper
NM_006045.3
p.S221A
c.661T>G
2 papers
NM_006045.3
p.R220*
c.658C>T
1 paper
NM_006045.3
p.D215G
c.644A>G
1 paper
NM_006045.3
p.D245V
c.734A>T
1 paper
NM_006045.3
p.P247L
c.740C>T
1 paper
NM_006045.3
p.I248fs
c.742_743fs
1 paper
NM_006045.3
p.I254V
c.760A>G
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