Varaico: Literature-Extracted Genetic Variants

Gene:ATP13A1
Variant:p.F1028L

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.F1028L
c.3084C>G
Surrounding Variants
1 paper
NM_020410.3
p.F1028L
c.3084C>A
1 paper
NM_020410.3
p.F1028L
c.3082T>C
1 paper
NM_020410.3
p.G1026S
c.3076G>A
1 paper
NM_020410.3
p.V1004I
c.3010G>A
1 paper
NM_020410.3
p.T984M
c.2951C>T
1 paper
NM_020410.3
p.Q968E
c.2902C>G
1 paper
NM_020410.3
p.E925V
c.2774A>T
1 paper
NM_020410.3
p.P921P
c.2763T>G
1 paper
NM_020410.3
p.L920I
c.2758C>A
1 paper
NM_020410.3
p.S918L
c.2753C>T
1 paper
NM_020410.3
p.R893Q
c.2678G>A
1 paper
NM_020410.3
p.N884S
c.2651A>G
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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."