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.T587T

c.1761G>C

Surrounding Variants

1 paper

NM_000053.4

p.T587T

c.1761G>A

4 papers

NM_000053.4

p.T587M

c.1760C>T

1 paper

NM_000053.4

p.R588M

c.1763G>T

2 papers

NM_000053.4

p.R588K

c.1763G>A

1 paper

NM_000053.4

p.T587S

c.1759A>T

1 paper

NM_000053.4

p.T587P

c.1759A>C

1 paper

NM_000053.4

p.T589delFs

c.1766delG

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

1 paper

NM_000053.4

p.S584P

c.1750T>C

2 papers

NM_000053.4

p.E583delFs

c.1748_1749delCT