Varaico: Literature-Extracted Genetic Variants

Gene:ATP10A
Variant:p.R999C

ATP10A

220 papers

RefSeq Summary

The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport ...

Pfam Domains

PhoLip_ATPase_Naa 45–112UCSCPhospholipid-translocating ATPase N-terminal
Cation_ATPaseaa 676–870UCSCP-type ATPase, cytoplasmic domain N
PhoLip_ATPase_Caa 1057–1302UCSCPhospholipid-translocating P-type ATPase C-terminal

Gene Aliases

HGNC Name

ATPase phospholipid transporting 10A (putative)

HGNC Previous Symbol

ATP10C

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
5 papers
NM_024490.4
p.R999C
c.2995C>T
Surrounding Variants
1 paper
NM_024490.4
p.F993V
c.2977T>G
1 paper
NM_024490.4
p.T1007M
c.3020C>T
1 paper
NM_024490.4
p.D989H
c.2965G>C
1 paper
NM_024490.4
p.M1013L
c.3037A>T
1 paper
NM_024490.4
p.M1013L
c.3037A>C
1 paper
NM_024490.4
p.E984Q
c.2950G>C
2 papers
NM_024490.4
p.R1019W
c.3055C>T
1 paper
NM_024490.4
p.L1022F
c.3064C>T
1 paper
NM_024490.4
p.D975N
c.2923G>A
1 paper
NM_024490.4
p.K1023N
c.3069G>T
1 paper
NM_024490.4
p.K1023N
c.3069G>C
1 paper
NM_024490.4
p.R968H
c.2903G>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."