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.I140insFs

c.418_419insG

Surrounding Variants

1 paper

NM_024490.4

p.K139*

c.415A>T

1 paper

NM_024490.4

p.D137V

c.410A>T

1 paper

NM_024490.4

p.D137Y

c.409G>T

1 paper

NM_024490.4

p.L143M

c.427C>A

1 paper

NM_024490.4

p.L143L

c.429G>A

2 papers

NM_024490.4

p.R135H

c.404G>A

1 paper

NM_024490.4

p.R135C

c.403C>T

1 paper

NM_024490.4

p.V147_F148insFs

c.441_442insC

1 paper

NM_024490.4

p.F148C

c.443T>G

1 paper

NM_024490.4

p.E129*

c.385G>T

1 paper

NM_024490.4

p.L127L

c.381G>A

1 paper

NM_024490.4

p.D126V

c.377A>T