Varaico: Literature-Extracted Genetic Variants

Gene:ATP13A1
Variant:p.Q1086E

ATP13A1

96 papers

Pfam Domains

2TM_P5A-ATPaseaa 59–134UCSCP5A-ATPase, transmembrane helical hairpin
E1-E2_ATPaseaa 295–431UCSCP-type ATPase actuator domain
Cation_ATPaseaa 569–728UCSCP-type ATPase, cytoplasmic domain N

Gene Aliases

HGNC Name

ATPase 13A1

HGNC Alias Symbols

KIAA1825; FLJ31858; CGI-152

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_020410.3
p.Q1086E
c.3256C>G
Surrounding Variants
1 paper
NM_020410.3
p.K1092N
c.3276G>T
1 paper
NM_020410.3
p.K1092N
c.3276G>C
1 paper
NM_020410.3
p.A1109T
c.3325G>A
1 paper
NM_020410.3
p.S1127C
c.3379A>T
1 paper
NM_020410.3
p.P1129T
c.3385C>A
1 paper
NM_020410.3
p.R1074C
c.3220C>T
1 paper
NM_020410.3
p.L1150L
c.3450C>T
2 papers
NM_020410.3
p.F1063L
c.3189T>G
2 papers
NM_020410.3
p.F1063L
c.3189T>A
2 papers
NM_020410.3
p.F1063L
c.3187T>C
1 paper
NM_020410.3
p.Q1061R
c.3182A>G
1 paper
NM_020410.3
p.M1059R
c.3176T>G
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