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.K867E

c.2599A>G

Surrounding Variants

1 paper

NM_000053.4

p.K867*

c.2599A>T

1 paper

NM_000053.4

p.T865_K866del1

c.2595_2597delTTA

1 paper

NM_000053.4

p.K866R

c.2597A>G

1 paper

NM_000053.4

p.K866del1

c.2596_2598delCTT

1 paper

NM_000053.4

p.K866*

c.2596A>T

1 paper

NM_000053.4

p.K866E

c.2596A>G

1 paper

NM_000053.4

p.P868P

c.2604C>T

1 paper

NM_000053.4

p.P868fs

c.2602_2603fs

2 papers

NM_000053.4

p.V864_T865insFs

c.2590_2593dup4

1 paper

NM_000053.4

p.T865fs

c.2593_2594fs

3 papers

NM_000053.4

p.G869*

c.2605G>T

60 papers

NM_000053.4

p.G869R

c.2605G>C