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.W1026*

c.3077G>A

Surrounding Variants

1 paper

NM_014616.3

p.W1026*

c.3078G>A

1 paper

NM_014616.3

p.V1031I

c.3091G>A

1 paper

NM_014616.3

p.Y1039insFs

c.3116_3117insTT

1 paper

NM_014616.3

p.Y1046delFs

c.3136delT

1 paper

NM_014616.3

p.W1051Splc

c.3152+11A>G

1 paper

NM_014616.3

p.K1016T

c.3047A>C

1 paper

NM_014616.3

p.F996F

c.2988T>C

1 paper

NM_014616.3

p.Q1057H

c.3171G>C

1 paper

NM_014616.3

p.Q1057H

c.3171G>T

1 paper

NM_014616.3

p.M1079I

c.3237G>A

1 paper

NM_014616.3

p.M1079I

c.3237G>C

1 paper

NM_014616.3

p.M1079I

c.3237G>T