Varaico: Literature-Extracted Genetic Variants

Gene:ATP10B
Variant:p.C1446fs

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
1 paper
NM_025153.3
p.C1446fs
c.4336_4337fs
Surrounding Variants
1 paper
NM_025153.3
p.M1443_R1445insFs
c.4328_4334dup7
2 papers
NM_025153.3
p.R1449K
c.4346G>A
1 paper
NM_025153.3
p.R1454*
c.4360C>T
5 papers
NM_025153.3
p.L1421F
c.4261C>T
1 paper
NM_025153.3
p.T1405M
c.4214C>T
1 paper
NM_025153.3
p.E1395Q
c.4183G>C
1 paper
NM_025153.3
p.N1386Y
c.4156A>T
1 paper
NM_025153.3
p.A1379A
c.4137C>T
1 paper
NM_025153.3
p.S1378I
c.4133G>T
1 paper
NM_025153.3
p.F1377L
c.4131C>G
1 paper
NM_025153.3
p.F1377L
c.4131C>A
1 paper
NM_025153.3
p.F1377L
c.4129T>C
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