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.K820N

c.2460A>T

Surrounding Variants

1 paper

NM_024490.4

p.E821Q

c.2461G>C

1 paper

NM_024490.4

p.E821del1

c.2461_2462delTTC

1 paper

NM_024490.4

p.Y823F

c.2468A>T

1 paper

NM_024490.4

p.Q828H

c.2484A>T

1 paper

NM_024490.4

p.E832K

c.2494G>A

3 papers

NM_024490.4

p.E834K

c.2500G>A

1 paper

NM_024490.4

p.L837insFs

c.2509_2510insT

2 papers

NM_024490.4

p.S836_L837delFs

c.2507_2510del4

1 paper

NM_024490.4

p.E841Q

c.2521G>C

1 paper

NM_024490.4

p.E841K

c.2521G>A

1 paper

NM_024490.4

p.I813I

c.2439C>T

2 papers

NM_024490.4

p.A804V

c.2411C>T