Varaico: Literature-Extracted Genetic Variants

Gene:ATP13A4
Variant:p.V833M

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.V833M
c.2497G>A
Surrounding Variants
1 paper
NM_032279.4
p.G827G
c.2481G>A
1 paper
NM_032279.4
p.L839P
c.2516T>C
1 paper
NM_032279.4
p.K813_I814Splc
c.2439+1G>A
1 paper
NM_032279.4
p.S799C
c.2396C>G
1 paper
NM_032279.4
p.Q772_D773Splc
c.2317-4G>T
1 paper
NM_032279.4
p.D840E
c.2520T>G
1 paper
NM_032279.4
p.D840E
c.2520T>A
1 paper
NM_032279.4
p.C846R
c.2536T>C
1 paper
NM_032279.4
p.N851S
c.2552A>G
1 paper
NM_032279.4
p.S737I
c.2210G>T
1 paper
NM_032279.4
p.V734A
c.2201T>C
1 paper
NM_032279.4
p.T726K
c.2177C>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."