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.Q289H

c.867A>T

Surrounding Variants

2 papers

NM_000053.4

p.V290L

c.868G>T

2 papers

NM_000053.4

p.V290L

c.868G>C

1 paper

NM_000053.4

p.Q289P

c.866A>C

23 papers

NM_000053.4

p.Q289*

c.865C>T

1 paper

NM_000053.4

p.V290V

c.870G>C

2 papers

NM_000053.4

p.S291A

c.871T>G

1 paper

NM_000053.4

p.L292L

c.874T>C

1 paper

NM_000053.4

p.L292S

c.875T>C

1 paper

NM_000053.4

p.L292L

c.876G>A

1 paper

NM_000053.4

p.I288_L292delFs

c.862_875del14

2 papers

NM_000053.4

p.Q286R

c.857A>G

3 papers

NM_000053.4

p.Q286*

c.856C>T