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.K910_A911Splc

c.2731-2A>T

Surrounding Variants

9 papers

NM_000053.4

p.K910_A911Splc

c.2731-2A>G

1 paper

NM_000053.4

p.K910_A911Splc

c.2731-3T>G

3 papers

NM_000053.4

p.K910_A911Splc

c.2731-1G>A

1 paper

NM_000053.4

p.A911P

c.2731G>C

2 papers

NM_000053.4

p.A911T

c.2731G>A

1 paper

NM_000053.4

p.A911fs

c.2731_2732fs

1 paper

NM_000053.4

p.P912H

c.2735C>A

1 paper

NM_000053.4

p.I913V

c.2737A>G

2 papers

NM_000053.4

p.I913fs

c.2737_2738fs

4 papers

NM_000053.4

p.Q914*

c.2740C>T

1 paper

NM_000053.4

p.Q915Q

c.2745G>A

3 papers

NM_000053.4

p.P912_L916delFs

c.2736_2746del11