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.V872E

c.2615T>A

Surrounding Variants

1 paper

NM_000053.4

p.V872L

c.2614G>T

1 paper

NM_001406546.1

p.V710I

c.2128G>A

1 paper

NM_000053.4

p.T871_V872del1

c.2613_2615delACA

1 paper

NM_000053.4

p.V872del1

c.2614_2616delTAC

2 papers

NM_000053.4

p.T871I

c.2612C>T

15 papers

NM_000053.4

p.A874P

c.2620G>C

135 papers

NM_000053.4

p.A874V

c.2621C>T

1 paper

NM_000053.4

p.A874A

c.2622G>C

13 papers

NM_000053.4

p.G875R

c.2623G>C

13 papers

NM_000053.4

p.G875R

c.2623G>A

4 papers

NM_000053.4

p.G869V

c.2606G>T

1 paper

NM_000053.4

p.G875V

c.2624G>T