Varaico: Literature-Extracted Genetic Variants

Gene:ATP13A1
Variant:p.T243S

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.T243S
c.727A>T
Surrounding Variants
1 paper
NM_020410.3
p.V254L
c.760G>T
1 paper
NM_020410.3
p.V254L
c.760G>C
1 paper
NM_020410.3
p.V267I
c.799G>A
1 paper
NM_020410.3
p.L270L
c.810A>G
1 paper
NM_020410.3
p.R286W
c.856C>T
1 paper
NM_020410.3
p.A313A
c.939C>T
1 paper
NM_020410.3
p.R327H
c.980G>A
1 paper
NM_020410.3
p.R342Q
c.1025G>A
1 paper
NM_020410.3
p.R344G
c.1030C>G
1 paper
NM_020410.3
p.I346I
c.1038C>T
1 paper
NM_020410.3
p.V347L
c.1039G>T
4 papers
NM_020410.3
p.E349K
c.1045G>A
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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."