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

33 papers

NM_000053.4

p.K175insFs

c.525dupA

Surrounding Variants

4 papers

NM_000053.4

p.K175delFs

c.524_525delTT

16 papers

NM_000053.4

p.V176fs

c.526_527fs

1 paper

NM_000053.4

p.V176insFs

c.526dupG

2 papers

NM_000053.4

p.K175_V176delFs

c.525_526delCT

1 paper

NM_000053.4

p.K175N

c.525A>T

1 paper

NM_000053.4

p.K175N

c.525A>C

2 papers

NM_000053.4

p.K175fs

c.523_524fs

5 papers

NM_000053.4

p.V176fs

c.526_527fs

1 paper

NM_000053.4

p.V176delFs

c.528delG

1 paper

NM_000053.4

p.K175E

c.523A>G

2 papers

NM_000053.4

p.V174_K175insFs

c.522_523insC

1 paper

NM_000053.4

p.S177fs

c.529_530fs