Varaico: Literature-Extracted Genetic Variants

Gene:ATP9A
Variant:p.E420K

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.E420K
c.1258G>A
Surrounding Variants
1 paper
NM_006045.3
p.M418V
c.1252A>G
1 paper
NM_006045.3
p.L415F
c.1243C>T
1 paper
NM_006045.3
p.R405Q
c.1214G>A
1 paper
NM_006045.3
p.R405W
c.1213C>T
1 paper
NM_006045.3
p.K404N
c.1212A>T
1 paper
NM_006045.3
p.K404N
c.1212A>C
3 papers
NM_006045.3
p.E400Q
c.1198G>C
1 paper
NM_006045.3
p.N399K
c.1197C>G
1 paper
NM_006045.3
p.N399K
c.1197C>A
1 paper
NM_006045.3
p.Q398*
c.1192C>T
2 papers
NM_006045.3
p.T393R
c.1178C>G
1 paper
NM_006045.3
p.D391Y
c.1171G>T
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