Varaico: Literature-Extracted Genetic Variants

Gene:ATP10D
Variant:p.E624D

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.E624D
c.1872G>T
Surrounding Variants
1 paper
NM_020453.4
p.E624D
c.1872G>C
1 paper
NM_020453.4
p.L617fs
c.1849_1850fs
1 paper
NM_020453.4
p.S633C
c.1898C>G
1 paper
NM_020453.4
p.S639F
c.1916C>T
1 paper
NM_020453.4
p.P640Q
c.1919C>A
1 paper
NM_020453.4
p.E694*
c.2080G>T
1 paper
NM_020453.4
p.E696*
c.2086G>T
1 paper
NM_020453.4
p.G700C
c.2098G>T
1 paper
NM_020453.4
p.D701V
c.2102A>T
1 paper
NM_020453.4
p.Q715_P716del2
c.2143_2147del6
1 paper
NM_020453.4
p.P716_L717del0
c.2146_2151del6
1 paper
NM_020453.4
p.P716T
c.2146C>A
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