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.H628fs

c.1882_1883fs

Surrounding Variants

1 paper

NM_000053.4

p.H628Y

c.1882C>T

3 papers

NM_000053.4

p.H628R

c.1883A>G

1 paper

NM_000053.4

p.F627C

c.1880T>G

1 paper

NM_000053.4

p.F627V

c.1879T>G

2 papers

NM_000053.4

p.A629P

c.1885G>C

2 papers

NM_000053.4

p.H628delFs

c.1883_1884delAT

1 paper

NM_000053.4

p.G626G

c.1878C>T

4 papers

NM_000053.4

p.G626fs

c.1876_1877fs

1 paper

NM_000053.4

p.A629insFs

c.1886_1887insA

1 paper

NM_000053.4

p.A629A

c.1887T>G

23 papers

NM_000053.4

p.G626A

c.1877G>C

1 paper

NM_000053.4

p.S630P

c.1888T>C