Varaico: Literature-Extracted Genetic Variants

ATP11B

85 papers

RefSeq Summary

P-type ATPases, such as ATP11B, are phosphorylated in their intermediate state and drive uphill transport of ions across membranes. Several subfamilies of P-type ATPases have been identified. One subf...

Pfam Domains

PhoLip_ATPase_Naa 22–91UCSCPhospholipid-translocating ATPase N-terminal

E1-E2_ATPaseaa 118–250UCSCP-type ATPase actuator domain

Cation_ATPaseaa 514–687UCSCP-type ATPase, cytoplasmic domain N

PhoLip_ATPase_Caa 847–1100UCSCPhospholipid-translocating P-type ATPase C-terminal

Gene Aliases

HGNC Name

ATPase phospholipid transporting 11B (putative)

HGNC Alias Symbols

ATPIF; ATPIR; KIAA0956

Papers

RefSeq ID

Protein change

DNA change

1–12 of 97 variants

3 papers

NM_014616.3

p.E1103K

c.3307G>A

2 papers

NM_014616.3

p.N415K

c.1245T>A

2 papers

NM_014616.3

p.N415K

c.1245T>G

2 papers

NM_014616.3

p.I432N

c.1295T>A

2 papers

NM_014616.3

p.L436V

c.1306C>G

2 papers

NM_014616.3

p.L534V

c.1600C>G

2 papers

NM_014616.3

p.T613N

c.1838C>A

2 papers

NM_014616.3

p.R954H

c.2861G>A

2 papers

NM_014616.3

p.Y980C

c.2939A>G

1 paper

NM_014616.3

p.P14A

c.40C>G

1 paper

NM_014616.3

p.R112Q

c.335G>A

1 paper

NM_014616.3

p.R128R

c.382C>A