Varaico: Literature-Extracted Genetic Variants

Gene:ATP13A1
Variant:p.H159L

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.H159L
c.476A>T
Surrounding Variants
1 paper
NM_020410.3
p.A139V
c.416C>T
1 paper
NM_020410.3
p.G166R
c.496G>C
1 paper
NM_020410.3
p.G166R
c.496G>A
1 paper
NM_020410.3
p.S201L
c.602C>T
1 paper
NM_020410.3
p.G223R
c.667G>C
1 paper
NM_020410.3
p.G223R
c.667G>A
1 paper
NM_020410.3
p.S224R
c.670A>C
1 paper
NM_020410.3
p.S224R
c.672C>G
1 paper
NM_020410.3
p.S224R
c.672C>A
1 paper
NM_020410.3
p.T243S
c.727A>T
1 paper
NM_020410.3
p.V254L
c.760G>T
1 paper
NM_020410.3
p.V254L
c.760G>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."