Varaico: Literature-Extracted Genetic Variants

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

2 papers

NM_024490.4

p.R53H

c.158G>A

Surrounding Variants

1 paper

NM_024490.4

p.R53C

c.157C>T

1 paper

NM_024490.4

p.G54fs

c.160_161fs

1 paper

NM_024490.4

p.R52W

c.154C>T

1 paper

NM_024490.4

p.R51G

c.151C>G

1 paper

NM_024490.4

p.R50P

c.149G>C

1 paper

NM_024490.4

p.H58ins2

c.173_174ins6

1 paper

NM_024490.4

p.H58Q

c.174C>G

1 paper

NM_024490.4

p.H58Q

c.174C>A

1 paper

NM_024490.4

p.D61G

c.182A>G

1 paper

NM_024490.4

p.A44A

c.132G>A

1 paper

NM_024490.4

p.N62D

c.184A>G

1 paper

NM_024490.4

p.A42G

c.125C>G