Varaico: Literature-Extracted Genetic Variants

Gene:ATP13A4
Variant:p.I707V

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
3 papers
NM_032279.4
p.I707V
c.2119A>G
Surrounding Variants
2 papers
NM_032279.4
p.E704A
c.2111A>C
1 paper
NM_032279.4
p.T699I
c.2096C>T
1 paper
NM_032279.4
p.T726K
c.2177C>A
1 paper
NM_032279.4
p.V734A
c.2201T>C
1 paper
NM_032279.4
p.S737I
c.2210G>T
1 paper
NM_032279.4
p.H669N
c.2005C>A
1 paper
NM_032279.4
p.T651M
c.1952C>T
9 papers
NM_032279.4
p.E646D
c.1938A>T
9 papers
NM_032279.4
p.E646D
c.1938A>C
1 paper
NM_032279.4
p.Q772_D773Splc
c.2317-4G>T
1 paper
NM_032279.4
p.S799C
c.2396C>G
1 paper
NM_032279.4
p.K813_I814Splc
c.2439+1G>A
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