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

2 papers

NM_014616.3

p.Y980C

c.2939A>G

Surrounding Variants

1 paper

NM_014616.3

p.G984E

c.2951G>A

1 paper

NM_014616.3

p.D986Y

c.2956G>T

1 paper

NM_014616.3

p.L989P

c.2966T>C

2 papers

NM_014616.3

p.R954H

c.2861G>A

1 paper

NM_014616.3

p.K952E

c.2854A>G

1 paper

NM_014616.3

p.R948Splc

c.2844-1G>A

1 paper

NM_014616.3

p.T945I

c.2834C>T

1 paper

NM_014616.3

p.L940F

c.2820A>C

1 paper

NM_014616.3

p.L940F

c.2820A>T

1 paper

NM_014616.3

p.E932*

c.2794G>T

1 paper

NM_014616.3

p.T891A

c.2671A>G

1 paper

NM_014616.3

p.Y884fs

c.2650_2651fs