Varaico: Literature-Extracted Genetic Variants

Gene:ATP10D
Variant:p.K1348N

ATP10D

111 papers

Pfam Domains

PhoLip_ATPase_Naa 57–124UCSCPhospholipid-translocating ATPase N-terminal
Cation_ATPaseaa 723–901UCSCP-type ATPase, cytoplasmic domain N
PhoLip_ATPase_Caa 1082–1327UCSCPhospholipid-translocating P-type ATPase C-terminal

Gene Aliases

HGNC Name

ATPase phospholipid transporting 10D (putative)

HGNC Alias Symbols

ATPVD; KIAA1487

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_020453.4
p.K1348N
c.4044G>C
Surrounding Variants
1 paper
NM_020453.4
p.K1348N
c.4044G>T
1 paper
NM_020453.4
p.G1352E
c.4055G>A
1 paper
NM_020453.4
p.L1338L
c.4014A>G
1 paper
NM_020453.4
p.L1338L
c.4012C>T
1 paper
NM_020453.4
p.M1385I
c.4155G>T
1 paper
NM_020453.4
p.K1386N
c.4158G>T
6 papers
NM_020453.4
p.S1389T
c.4166G>C
1 paper
NM_020453.4
p.S1390F
c.4169C>T
1 paper
NM_020453.4
p.L1398delFs
c.4192_4193delTT
1 paper
NM_020453.4
p.L1398fs
c.4192_4193fs
1 paper
NM_020453.4
p.Q1291*
c.3871C>T
1 paper
NM_020453.4
p.L1268F
c.3804A>C
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