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

Selected Variant

1 paper

NM_014616.3

p.S717G

c.2149A>G

Surrounding Variants

1 paper

NM_014616.3

p.K736R

c.2207A>G

1 paper

NM_014616.3

p.I615M

c.1845T>G

2 papers

NM_014616.3

p.T613N

c.1838C>A

1 paper

NM_014616.3

p.I601V

c.1801A>G

1 paper

NM_014616.3

p.A594D

c.1781C>A

1 paper

NM_014616.3

p.M579I

c.1737G>A

1 paper

NM_014616.3

p.M579I

c.1737G>C

1 paper

NM_014616.3

p.M579I

c.1737G>T

1 paper

NM_014616.3

p.R576H

c.1727G>A

1 paper

NM_014616.3

p.T767P

c.2299A>C

1 paper

NM_014616.3

p.E562*

c.1684G>T

1 paper

NM_014616.3

p.D825Y

c.2473G>T