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_001330578.2

p.V978insFs

c.2932_2933insGA

Surrounding Variants

1 paper

NM_001330578.2

p.V978insFs

c.2932_2933insG

2 papers

NM_000053.4

p.V1056A

c.3167T>C

1 paper

NM_001330578.2

p.V978fs

c.2932_2933fs

1 paper

NM_000053.4

p.V1056I

c.3166G>A

1 paper

NM_000053.4

p.K1055N

c.3165G>T

1 paper

NM_000053.4

p.K1055N

c.3165G>C

2 papers

NM_000053.4

p.L1057L

c.3169C>T

2 papers

NM_000053.4

p.V1056delFs

c.3168delA

3 papers

NM_000053.4

p.L1057P

c.3170T>C

1 paper

NM_000053.4

p.L1057fs

c.3169_3170fs

2 papers

NM_000053.4

p.A1058V

c.3173C>T

1 paper

NM_000053.4

p.A1058D

c.3173C>A