Varaico: Literature-Extracted Genetic Variants

Gene:ATP13A1

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
1–12 of 122 variants
4 papers
NM_020410.3
p.E349K
c.1045G>A
4 papers
NM_020410.3
p.Q1086E
c.3256C>G
2 papers
NM_020410.3
p.E556K
c.1666G>A
2 papers
NM_020410.3
p.A652V
c.1955C>T
2 papers
NM_020410.3
p.A838T
c.2512G>A
2 papers
NM_020410.3
p.R1044Q
c.3131G>A
2 papers
NM_020410.3
p.F1063L
c.3187T>C
2 papers
NM_020410.3
p.F1063L
c.3189T>G
2 papers
NM_020410.3
p.F1063L
c.3189T>A
1 paper
NM_020410.3
p.A4V
c.11C>T
1 paper
NM_020410.3
p.P26P
c.78C>A
1 paper
NM_020410.3
p.L42F
c.124C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."