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

4 papers

NM_000053.4

p.M996T

c.2987T>C

Surrounding Variants

1 paper

NM_000053.4

p.V997L

c.2989G>T

1 paper

NM_000053.4

p.V997L

c.2989G>C

1 paper

NM_000053.4

p.V997M

c.2989G>A

1 paper

NM_000053.4

p.V995V

c.2985C>T

1 paper

NM_000053.4

p.V997G

c.2990T>G

8 papers

NM_000053.4

p.V995A

c.2984T>C

1 paper

NM_000053.4

p.V995F

c.2983G>T

1 paper

NM_000053.4

p.G998C

c.2992G>T

1 paper

NM_000053.4

p.G998S

c.2992G>A

3 papers

NM_000053.4

p.G998D

c.2993G>A

4 papers

NM_000053.4

p.G998G

c.2994C>T

1 paper

NM_000053.4

p.T993T

c.2979G>C