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.I618V

c.1852A>G

Surrounding Variants

1 paper

NM_000053.4

p.D617delFs

c.1850delT

2 papers

NM_000053.4

p.D617insFs

c.1849_1850insG

4 papers

NM_000053.4

p.D617delFs

c.1849delC

4 papers

NM_000053.4

p.D617fs

c.1849_1850fs

38 papers

NM_000053.4

p.R616Q

c.1847G>A

1 paper

NM_000053.4

p.I619I

c.1857C>A

24 papers

NM_000053.4

p.R616W

c.1846C>T

2 papers

NM_000053.4

p.R616G

c.1846C>G

1 paper

NM_000053.4

p.P615L

c.1844C>T

1 paper

NM_000053.4

p.P615T

c.1843C>A

1 paper

NM_000053.4

p.I621T

c.1862T>C

1 paper

NM_000053.4

p.G614D

c.1841G>A