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

2 papers

NM_000053.4

p.G591G

c.1773C>G

Surrounding Variants

1 paper

NM_000053.4

p.G591V

c.1772G>T

27 papers

NM_000053.4

p.G591D

c.1772G>A

5 papers

NM_000053.4

p.I592F

c.1774A>T

1 paper

NM_000053.4

p.G591delFs

c.1772_1773delGC

1 paper

NM_000053.4

p.N590insFs

c.1770dupT

2 papers

NM_000053.4

p.G591R

c.1771G>C

7 papers

NM_000053.4

p.G591S

c.1771G>A

2 papers

NM_000053.4

p.T593A

c.1777A>G

1 paper

NM_000053.4

p.T589delFs

c.1766delG

3 papers

NM_000053.4

p.Y594*

c.1782T>G

3 papers

NM_000053.4

p.Y594*

c.1782T>A

1 paper

NM_000053.4

p.R588M

c.1763G>T