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.N878T

c.2633A>C

Surrounding Variants

2 papers

NM_000053.4

p.N878K

c.2634T>G

2 papers

NM_000053.4

p.N878K

c.2634T>A

1 paper

NM_000053.4

p.N878H

c.2632A>C

1 paper

NM_000053.4

p.A879S

c.2635G>T

1 paper

NM_000053.4

p.A879T

c.2635G>A

1 paper

NM_000053.4

p.I877V

c.2629A>G

2 papers

NM_000053.4

p.S876C

c.2627C>G

1 paper

NM_000053.4

p.H880L

c.2639A>T

1 paper

NM_000053.4

p.M862_G875del14

c.2584_2624del42

1 paper

NM_000053.4

p.G881C

c.2641G>T

1 paper

NM_000053.4

p.G875V

c.2624G>T

1 paper

NM_000053.4

p.G881D

c.2642G>A