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.L989R

c.2966T>G

Surrounding Variants

1 paper

NM_000053.4

p.L989L

c.2967G>T

1 paper

NM_000053.4

p.L989L

c.2967G>A

1 paper

NM_000053.4

p.G988G

c.2964G>T

4 papers

NM_000053.4

p.A990P

c.2968G>C

2 papers

NM_000053.4

p.A990T

c.2968G>A

2 papers

NM_000053.4

p.G988V

c.2963G>T

1 paper

NM_000053.4

p.G988E

c.2963G>A

1 paper

NM_000053.4

p.A990V

c.2969C>T

1 paper

NM_000053.4

p.A990D

c.2969C>A

7 papers

NM_000053.4

p.G988R

c.2962G>C

7 papers

NM_000053.4

p.G988R

c.2962G>A

2 papers

NM_000053.4

p.T991A

c.2971A>G