Varaico: Literature-Extracted Genetic Variants

Gene:ATP11C
Variant:p.L789F

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
2 papers
NM_001010986.3
p.L789F
c.2365C>T
NM_001353812.2
p.L786F
c.2356C>T
Surrounding Variants
1 paper
NM_001353812.2
p.R789W
c.2365C>T
1 paper
NM_001353812.2
p.E746E
c.2238A>G
1 paper
NM_001353812.2
p.K806R
c.2417A>G
2 papers
NM_173694.5
p.P812S
c.2434C>T
2 papers
NM_001353812.2
p.L812L
c.2434C>T
1 paper
NM_001353812.2
p.E837A
c.2510A>C
1 paper
NM_001353812.2
p.L873P
c.2618T>C
1 paper
NM_001353812.2
p.A681T
c.2041G>A
1 paper
NM_001353812.2
p.I660T
c.1979T>C
1 paper
NM_001353812.2
p.Q655*
c.1963C>T
1 paper
NM_001353812.2
p.K651N
c.1953G>T
1 paper
NM_001353812.2
p.K651N
c.1953G>C
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