Varaico: Literature-Extracted Genetic Variants

Gene:ATP10D
Variant:p.Y1191H

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.Y1191H
c.3571T>C
Surrounding Variants
1 paper
NM_020453.4
p.V1209fs
c.3625_3626fs
1 paper
NM_020453.4
p.T1234P
c.3700A>C
1 paper
NM_020453.4
p.V1240I
c.3718G>A
1 paper
NM_020453.4
p.L1241P
c.3722T>C
1 paper
NM_020453.4
p.S1248N
c.3743G>A
1 paper
NM_020453.4
p.G1185C
c.3553G>T
6 papers
NM_020453.4
p.R1183K
c.3548G>A
1 paper
NM_020453.4
p.L1175I
c.3523C>A
1 paper
NM_020453.4
p.P1160S
c.3478C>T
1 paper
NM_020453.4
p.I1149T
c.3446T>C
1 paper
NM_020453.4
p.Y1124F
c.3371A>T
1 paper
NM_020453.4
p.V1122_A1123Splc
c.3367-50A>G
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