Varaico: Literature-Extracted Genetic Variants

Gene:ATP10B
Variant:p.R749H

ATP10B

161 papers

Pfam Domains

PhoLip_ATPase_Naa 26–91UCSCPhospholipid-translocating ATPase N-terminal
PhoLip_ATPase_Naa 48–119UCSCPhospholipid-translocating ATPase N-terminal
Cation_ATPaseaa 717–896UCSCP-type ATPase, cytoplasmic domain N
PhoLip_ATPase_Caa 1081–1325UCSCPhospholipid-translocating P-type ATPase C-terminal

Gene Aliases

HGNC Name

ATPase phospholipid transporting 10B (putative)

HGNC Alias Symbols

ATPVB; KIAA0715; FLJ21477

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_025153.3
p.R749H
c.2246G>A
Surrounding Variants
1 paper
NM_025153.3
p.V748A
c.2243T>C
4 papers
NM_025153.3
p.V748L
c.2242G>T
4 papers
NM_025153.3
p.V748L
c.2242G>C
1 paper
NM_025153.3
p.P751T
c.2251C>A
1 paper
NM_025153.3
p.V746G
c.2237T>G
1 paper
NM_025153.3
p.V746L
c.2236G>T
1 paper
NM_025153.3
p.V746L
c.2236G>C
1 paper
NM_025153.3
p.A730T
c.2188G>A
1 paper
NM_025153.3
p.V769A
c.2306T>C
2 papers
NM_025153.3
p.A726T
c.2176G>A
1 paper
NM_025153.3
p.A725A
c.2175C>T
1 paper
NM_025153.3
p.E720K
c.2158G>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."