Varaico: Literature-Extracted Genetic Variants

Gene:ATP13A4
Variant:p.D1099_L1100Splc

ATP13A4

96 papers

Pfam Domains

P5-ATPaseaa 16–141UCSCP5-type ATPase cation transporter
Cation_ATPase_Naa 154–217UCSCCation transporter/ATPase, N-terminus
E1-E2_ATPaseaa 257–385UCSCP-type ATPase actuator domain
Cation_ATPaseaa 579–698UCSCP-type ATPase, cytoplasmic domain N

Gene Aliases

HGNC Name

ATPase 13A4

HGNC Alias Symbols

DKFZp761I1011; FLJ37958

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_032279.4
p.D1099_L1100Splc
c.3298-5G>A
Surrounding Variants
1 paper
NM_032279.4
p.P1104S
c.3310C>T
1 paper
NM_032279.4
p.L1123F
c.3367C>T
1 paper
NM_032279.4
p.E1126_E1127Splc
c.3378+259A>G
1 paper
NM_032279.4
p.L1098S
c.3293T>C
1 paper
NM_032279.4
p.A1089G
c.3266C>G
1 paper
NM_032279.4
p.E1131K
c.3391G>A
1 paper
NM_032279.4
p.R1141K
c.3422G>A
1 paper
NM_032279.4
p.I1153M
c.3459A>G
1 paper
NM_032279.4
p.R1156G
c.3466A>G
1 paper
NM_032279.4
p.*1197G
c.3589T>G
1 paper
NM_032279.4
p.R1063_P1065del3
c.3187_3194del9
1 paper
NM_032279.4
p.S1035R
c.3105T>G
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