Varaico: Literature-Extracted Genetic Variants

Gene:ATP10A
Variant:p.S293G

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
1 paper
NM_024490.4
p.S293G
c.877A>G
Surrounding Variants
1 paper
NM_024490.4
p.G294V
c.881G>T
2 papers
NM_024490.4
p.R296C
c.886C>T
1 paper
NM_024490.4
p.A288P
c.862G>C
1 paper
NM_024490.4
p.S300R
c.900C>A
1 paper
NM_024490.4
p.G283Splc
c.848-2A>T
2 papers
NM_024490.4
p.C308C
c.924C>T
1 paper
NM_024490.4
p.D309E
c.927C>G
1 paper
NM_024490.4
p.D309E
c.927C>A
1 paper
NM_024490.4
p.L311V
c.931C>G
4 papers
NM_024490.4
p.V314A
c.941T>C
1 paper
NM_024490.4
p.L315Q
c.944T>A
1 paper
NM_024490.4
p.S321P
c.961T>C
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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."