Varaico: Literature-Extracted Genetic Variants

Gene:ATP11C
Variant:p.K145_V146Splc

ATP11C

48 papers

Pfam Domains

PhoLip_ATPase_Naa 26–95UCSCPhospholipid-translocating ATPase N-terminal
E1-E2_ATPaseaa 122–275UCSCP-type ATPase actuator domain
Cation_ATPaseaa 462–658UCSCP-type ATPase, cytoplasmic domain N
PhoLip_ATPase_Caa 845–1097UCSCPhospholipid-translocating P-type ATPase C-terminal

Gene Aliases

HGNC Name

ATPase phospholipid transporting 11C

HGNC Alias Symbols

ATPIG; ATPIQ

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001010986.3
p.K145_V146Splc
c.436-7A>G
Surrounding Variants
1 paper
NM_001353812.2
p.C165Y
c.494G>A
1 paper
NM_001353812.2
p.E181Q
c.541G>C
1 paper
NM_001353812.2
p.L218R
c.653T>G
1 paper
NM_001010986.3
p.N276K
c.828C>G
1 paper
NM_001010986.3
p.N276K
c.828C>A
1 paper
NM_001010986.3
p.Y298D
c.892T>G
1 paper
NM_001353812.2
p.C306Y
c.917G>A
1 paper
NM_001353812.2
p.V312_W313insT
c.934_938ins3
1 paper
NM_001010986.3
p.R335*
c.1003C>T
1 paper
NM_001353812.2
p.I355V
c.1063A>G
1 paper
NM_001353812.2
p.V357I
c.1069G>A
1 paper
NM_001353812.2
p.F372I
c.1114T>A
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