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

5 papers

NM_000053.4

p.V597I

c.1789G>A

Surrounding Variants

1 paper

NM_000053.4

p.V597F

c.1789G>T

1 paper

NM_000053.4

p.S596S

c.1788C>T

5 papers

NM_000053.4

p.A595T

c.1783G>A

4 papers

NM_000053.4

p.Y594delFs

c.1782delA

1 paper

NM_000053.4

p.L599F

c.1795C>T

3 papers

NM_000053.4

p.Y594*

c.1782T>G

3 papers

NM_000053.4

p.Y594*

c.1782T>A

2 papers

NM_000053.4

p.T593A

c.1777A>G

1 paper

NM_000053.4

p.T601T

c.1803C>T

1 paper

NM_000053.4

p.S602fs

c.1804_1805fs

5 papers

NM_000053.4

p.I592F

c.1774A>T

5 papers

NM_000053.4

p.T601delFs

c.1803delG