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

3 papers

NM_000053.4

p.S218_L219delFs

c.654_655delGG

Surrounding Variants

1 paper

NM_000053.4

p.L219fs

c.655_656fs

1 paper

NM_000053.4

p.G220*

c.658G>T

1 paper

NM_000053.4

p.S218I

c.653G>T

1 paper

NM_000053.4

p.G220A

c.659G>C

1 paper

NM_000053.4

p.G220G

c.660A>C

1 paper

NM_000053.4

p.G220del1

c.658_660delTCC

2 papers

NM_000053.4

p.L217*

c.650T>G

2 papers

NM_000053.4

p.L217*

c.650T>A

1 paper

NM_000053.4

p.P216insFs

c.648dupC

1 paper

NM_000053.4

p.I222V

c.664A>G

1 paper

NM_000053.4

p.I222T

c.665T>C

1 paper

NM_000053.4

p.A215delFs

c.644delG