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

1 paper

NM_024490.4

p.Y799*

c.2397C>G

Surrounding Variants

1 paper

NM_024490.4

p.Y799*

c.2397C>A

1 paper

NM_024490.4

p.L800I

c.2398C>A

1 paper

NM_024490.4

p.Q797L

c.2390A>T

2 papers

NM_024490.4

p.A804V

c.2411C>T

1 paper

NM_024490.4

p.R793W

c.2377C>T

1 paper

NM_024490.4

p.K791fs

c.2371_2372fs

1 paper

NM_024490.4

p.H788P

c.2363A>C

1 paper

NM_024490.4

p.I813I

c.2439C>T

4 papers

NM_024490.4

p.A784T

c.2350G>A

1 paper

NM_024490.4

p.D783H

c.2347G>C

1 paper

NM_024490.4

p.K820N

c.2460A>T

1 paper

NM_024490.4

p.E821Q

c.2461G>C