Varaico: Literature-Extracted Genetic Variants

Gene:ATP13A1
Variant:p.L485P

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
1 paper
NM_020410.3
p.L485P
c.1454T>C
Surrounding Variants
1 paper
NM_020410.3
p.E492Q
c.1474G>C
1 paper
NM_020410.3
p.E492K
c.1474G>A
1 paper
NM_020410.3
p.E492A
c.1475A>C
1 paper
NM_020410.3
p.E492D
c.1476G>T
1 paper
NM_020410.3
p.E492D
c.1476G>C
1 paper
NM_020410.3
p.P494H
c.1481C>A
1 paper
NM_020410.3
p.I495S
c.1484T>G
1 paper
NM_020410.3
p.E496Q
c.1486G>C
1 paper
NM_020410.3
p.E496K
c.1486G>A
1 paper
NM_020410.3
p.E496A
c.1487A>C
1 paper
NM_020410.3
p.E496D
c.1488G>T
1 paper
NM_020410.3
p.E496D
c.1488G>C
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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."