Varaico: Literature-Extracted Genetic Variants

ATP7B

1,493 papers

RefSeq Summary

This gene is a member of the P-type cation transport ATPase family and encodes a protein with several membrane-spanning domains, an ATPase consensus sequence, a hinge domain, a phosphorylation site, a...

Pfam Domains

HMAaa 61–122UCSCHeavy-metal-associated domain

HMAaa 146–207UCSCHeavy-metal-associated domain

HMAaa 260–320UCSCHeavy-metal-associated domain

HMAaa 362–423UCSCHeavy-metal-associated domain

E1-E2_ATPaseaa 400–474UCSCP-type ATPase actuator domain

HMAaa 491–552UCSCHeavy-metal-associated domain

Gene Aliases

HGNC Name

ATPase copper transporting beta

HGNC Previous Symbol

WND

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000053.4

p.G922_V925del0

c.2765_2773del9

Surrounding Variants

1 paper

NM_000053.4

p.V925V

c.2775C>T

1 paper

NM_000053.4

p.V925del1

c.2773_2775delGAC

1 paper

NM_000053.4

p.P926R

c.2777C>G

1 paper

NM_000053.4

p.F927fs

c.2779_2780fs

1 paper

NM_000053.4

p.F927delFs

c.2781delA

1 paper

NM_000053.4

p.G922V

c.2765G>T

1 paper

NM_000053.4

p.G922E

c.2765G>A

5 papers

NM_000053.4

p.S921R

c.2763T>G

5 papers

NM_000053.4

p.S921R

c.2763T>A

22 papers

NM_000053.4

p.I929V

c.2785A>G

10 papers

NM_000053.4

p.S921N

c.2762G>A

1 paper

NM_000053.4

p.S921G

c.2761A>G