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.I612V

c.1834A>G

Surrounding Variants

1 paper

NM_000053.4

p.V597_E611del15

c.1789_1832del45

4 papers

NM_000053.4

p.E611K

c.1831G>A

3 papers

NM_000053.4

p.P610P

c.1830G>A

4 papers

NM_000053.4

p.P610L

c.1829C>T

3 papers

NM_000053.4

p.I613I

c.1839C>T

3 papers

NM_000053.4

p.G614C

c.1840G>T

4 papers

NM_000053.4

p.G614S

c.1840G>A

1 paper

NM_000053.4

p.P610S

c.1828C>T

1 paper

NM_000053.4

p.P610insFs

c.1828_1829insA

1 paper

NM_000053.4

p.G614D

c.1841G>A

1 paper

NM_000053.4

p.D609E

c.1827C>G

1 paper

NM_000053.4

p.D609E

c.1827C>A