Varaico: Literature-Extracted Genetic Variants

Gene:ATP10B
Variant:p.K139R

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.K139R
c.416A>G
Surrounding Variants
1 paper
NM_025153.3
p.R140R
c.418A>C
1 paper
NM_025153.3
p.R140S
c.420A>T
1 paper
NM_025153.3
p.D137_R140delFs
c.409_419del11
1 paper
NM_025153.3
p.D137fs
c.409_410fs
1 paper
NM_025153.3
p.D144V
c.431A>T
6 papers
NM_025153.3
p.R153*
c.457C>T
1 paper
NM_025153.3
p.R157Splc
c.470+5G>C
1 paper
NM_025153.3
p.R115_E116del2
c.343_347del6
1 paper
NM_025153.3
p.H114N
c.340C>A
1 paper
NM_025153.3
p.E111D
c.333A>T
1 paper
NM_025153.3
p.E111D
c.333A>C
5 papers
NM_025153.3
p.N105S
c.314A>G
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