Varaico: Literature-Extracted Genetic Variants

Gene:ATP13A4
Variant:p.P573L

ATP13A4

96 papers

Pfam Domains

P5-ATPaseaa 16–141UCSCP5-type ATPase cation transporter
Cation_ATPase_Naa 154–217UCSCCation transporter/ATPase, N-terminus
E1-E2_ATPaseaa 257–385UCSCP-type ATPase actuator domain
Cation_ATPaseaa 579–698UCSCP-type ATPase, cytoplasmic domain N

Gene Aliases

HGNC Name

ATPase 13A4

HGNC Alias Symbols

DKFZp761I1011; FLJ37958

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_032279.4
p.P573L
c.1718C>T
Surrounding Variants
1 paper
NM_032279.4
p.A561V
c.1682C>T
1 paper
NM_032279.4
p.E559K
c.1675G>A
1 paper
NM_032279.4
p.F601fs
c.1801_1802fs
2 papers
NM_032279.4
p.S603L
c.1808C>T
1 paper
NM_032279.4
p.V612F
c.1834G>T
1 paper
NM_032279.4
p.L620L
c.1858C>T
2 papers
NM_032279.4
p.E628D
c.1884G>T
2 papers
NM_032279.4
p.E628D
c.1884G>C
1 paper
NM_032279.4
p.W558_E559Splc
c.1674+5G>A
1 paper
NM_032279.4
p.D540N
c.1618G>A
1 paper
NM_032279.4
p.L539V
c.1615C>G
1 paper
NM_032279.4
p.I537I
c.1611C>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."