Varaico: Literature-Extracted Genetic Variants

Gene:ATP13A1
Variant:p.A652V

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
2 papers
NM_020410.3
p.A652V
c.1955C>T
Surrounding Variants
1 paper
NM_020410.3
p.A637V
c.1910C>T
1 paper
NM_020410.3
p.R632*
c.1894C>T
1 paper
NM_020410.3
p.V685I
c.2053G>A
1 paper
NM_020410.3
p.D582N
c.1744G>A
1 paper
NM_020410.3
p.Q579*
c.1735C>T
1 paper
NM_020410.3
p.S576S
c.1728G>A
1 paper
NM_020410.3
p.R569W
c.1705C>T
2 papers
NM_020410.3
p.E556K
c.1666G>A
1 paper
NM_020410.3
p.D553N
c.1657G>A
1 paper
NM_020410.3
p.S540R
c.1620T>G
1 paper
NM_020410.3
p.S540R
c.1620T>A
1 paper
NM_020410.3
p.S540C
c.1618A>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."