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.K755E

c.2263A>G

Surrounding Variants

1 paper

NM_000053.4

p.K755*

c.2263A>T

1 paper

NM_000053.4

p.E754D

c.2262G>T

3 papers

NM_000053.4

p.K755R

c.2264A>G

5 papers

NM_000053.4

p.E754G

c.2261A>G

1 paper

NM_000053.4

p.E754A

c.2261A>C

1 paper

NM_000053.4

p.E754*

c.2260G>T

1 paper

NM_000053.4

p.E754Q

c.2260G>C

2 papers

NM_000053.4

p.E754K

c.2260G>A

3 papers

NM_000053.4

p.A753insFs

c.2258_2259insC

11 papers

NM_000053.4

p.A756V

c.2267C>T

9 papers

NM_000053.4

p.A756G

c.2267C>G

6 papers

NM_000053.4

p.A756A

c.2268G>A