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

65 papers

NM_000053.4

p.G1061E

c.3182G>A

Surrounding Variants

1 paper

NM_000053.4

p.V1060del1

c.3178_3180delCAC

3 papers

NM_000053.4

p.G1061W

c.3181G>T

3 papers

NM_000053.4

p.G1061R

c.3181G>C

1 paper

NM_000053.4

p.G1061G

c.3183G>C

3 papers

NM_000053.4

p.G1061R

c.3181G>A

1 paper

NM_001005918.3

p.A851_G854del4

c.2551_2561del12

1 paper

NM_000053.4

p.V1059V

c.3177G>C

17 papers

NM_000053.4

p.A1063V

c.3188C>T

2 papers

NM_000053.4

p.A1063A

c.3189G>A

31 papers

NM_000053.4

p.E1064K

c.3190G>A

2 papers

NM_000053.4

p.A1058V

c.3173C>T

1 paper

NM_000053.4

p.A1058D

c.3173C>A