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.A215delFs

c.644delG

Surrounding Variants

1 paper

NM_000053.4

p.A215delFs

c.643delC

2 papers

NM_000053.4

p.A215T

c.643G>A

5 papers

NM_000053.4

p.K213_V214del2

c.637_641del6

1 paper

NM_000053.4

p.P216insFs

c.648dupC

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.V214M

c.640G>A

2 papers

NM_000053.4

p.K213I

c.638A>T

1 paper

NM_000053.4

p.S218I

c.653G>T

1 paper

NM_000053.4

p.S212I

c.635G>T

1 paper

NM_000053.4

p.L219fs

c.655_656fs

3 papers

NM_000053.4

p.S218_L219delFs

c.654_655delGG