Varaico: Literature-Extracted Genetic Variants

ATP11A

372 papers

RefSeq Summary

The protein encoded by this gene is an integral membrane ATPase. The encoded protein is probably phosphorylated in its intermediate state and likely drives the transport of ions such as calcium across...

Pfam Domains

PhoLip_ATPase_Naa 26–97UCSCPhospholipid-translocating ATPase N-terminal

E1-E2_ATPaseaa 124–276UCSCP-type ATPase actuator domain

Cation_ATPaseaa 469–668UCSCP-type ATPase, cytoplasmic domain N

PhoLip_ATPase_Caa 851–1103UCSCPhospholipid-translocating P-type ATPase C-terminal

Gene Aliases

HGNC Name

ATPase phospholipid transporting 11A

HGNC Alias Symbols

ATPIH; ATPIS; KIAA1021

Papers

RefSeq ID

Protein change

DNA change

1–12 of 300 variants

9 papers

NM_015205.3

p.M317V

c.949A>G

6 papers

NM_015205.3

p.Q84E

c.250C>G

4 papers

NM_015205.3

p.Q111R

c.332A>G

3 papers

NM_015205.3

p.P35Q

c.104C>A

3 papers

NM_015205.3

p.E114G

c.341A>G

3 papers

NM_015205.3

p.E186Q

c.556G>C

3 papers

NM_015205.3

p.S399L

c.1196C>T

3 papers

NM_015205.3

p.R544K

c.1631G>A

3 papers

NM_015205.3

p.S1046S

c.3138G>A

2 papers

NM_015205.3

p.C3S

c.7T>A

2 papers

NM_015205.3

p.V6E

c.17T>A

2 papers

NM_015205.3

p.E32K

c.94G>A