Varaico: Literature-Extracted Genetic Variants

Gene:ATP9B
Variant:p.R116L

ATP9B

74 papers

Pfam Domains

PhoLip_ATPase_Naa 114–183UCSCPhospholipid-translocating ATPase N-terminal
E1-E2_ATPaseaa 213–360UCSCP-type ATPase actuator domain
Hydrolaseaa 641–886UCSChaloacid dehalogenase-like hydrolase
PhoLip_ATPase_Caa 900–1140UCSCPhospholipid-translocating P-type ATPase C-terminal

Gene Aliases

HGNC Name

ATPase phospholipid transporting 9B (putative)

HGNC Alias Symbol

ATPIIB

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_198531.5
p.R116L
c.347G>T
Surrounding Variants
1 paper
NM_198531.5
p.G148_V149Splc
c.444+5G>T
1 paper
NM_198531.5
p.L150fs
c.448_449fs
1 paper
NM_198531.5
p.Y161*
c.483T>A
1 paper
NM_198531.5
p.Y161*
c.483T>G
1 paper
NM_198531.5
p.V164V
c.492A>G
1 paper
NM_198531.5
p.Q169*
c.505C>T
1 paper
NM_198531.5
p.W183*
c.548G>A
1 paper
NM_198531.5
p.W183*
c.549G>A
2 papers
NM_198531.5
p.A184T
c.550G>A
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