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

2 papers

NM_000053.4

p.V834V

c.2502C>G

Surrounding Variants

3 papers

NM_000053.4

p.V834D

c.2501T>A

1 paper

NM_000053.4

p.P835S

c.2503C>T

1 paper

NM_000053.4

p.V834I

c.2500G>A

2 papers

NM_000053.4

p.G836R

c.2506G>C

2 papers

NM_000053.4

p.G836R

c.2506G>A

1 paper

NM_000053.4

p.G836fs

c.2506_2507fs

7 papers

NM_000053.4

p.G836E

c.2507G>A

4 papers

NM_000053.4

p.G837*

c.2509G>T

91 papers

NM_000053.4

p.K832R

c.2495A>G

2 papers

NM_000053.4

p.K832T

c.2495A>C

4 papers

NM_000053.4

p.K832insFs

c.2495_2496insG

1 paper

NM_000053.4

p.G837E

c.2510G>A