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.I570fs

c.1708_1709fs

Surrounding Variants

1 paper

NM_000053.4

p.I570Fs

c.1708delinsCGFs

49 papers

NM_000053.4

p.T569_I570Splc

c.1708-1G>C

14 papers

NM_000053.4

p.T569_I570Splc

c.1708-1G>A

2 papers

NM_000053.4

p.T569_I570Splc

c.1708-2A>G

42 papers

NM_000053.4

p.T569_I570Splc

c.1708-5T>G

2 papers

NM_000053.4

p.T569_I570Splc

c.1708-5T>C

1 paper

NM_000053.4

p.G572G

c.1716G>T

3 papers

NM_000053.4

p.G572delFs

c.1716delC

2 papers

NM_000053.4

p.M573fs

c.1717_1718fs

1 paper

NM_000053.4

p.I570_M573delFs

c.1708_1718del11

1 paper

NM_000053.4

p.T574insFs

c.1721_1722ins4

1 paper

NM_000053.4

p.T571_T574del4

c.1711_1721del12