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.R128R

c.382C>A

Surrounding Variants

1 paper

NM_014616.3

p.R128Q

c.383G>A

1 paper

NM_014616.3

p.R112Q

c.335G>A

1 paper

NM_014616.3

p.G143D

c.428G>A

1 paper

NM_014616.3

p.D164G

c.491A>G

1 paper

NM_014616.3

p.D178N

c.532G>A

1 paper

NM_014616.3

p.P190fs

c.568_569fs

1 paper

NM_014616.3

p.A199T

c.595G>A

1 paper

NM_014616.3

p.N200S

c.599A>G

1 paper

NM_014616.3

p.V207L

c.619G>C

1 paper

NM_014616.3

p.V207L

c.619G>T

1 paper

NM_014616.3

p.E232Q

c.694G>C

1 paper

NM_014616.3

p.G238W

c.712G>T