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.R1319*

c.3955C>T

NM_001005918.3

p.R1112*

c.3334C>T

Surrounding Variants

3 papers

NM_000053.4

p.R1319Q

c.3956G>A

1 paper

NM_000053.4

p.V1318F

c.3952G>T

1 paper

NM_000053.4

p.T1317T

c.3951T>C

2 papers

NM_000053.4

p.R1320T

c.3959G>C

11 papers

NM_000053.4

p.R1320S

c.3960G>T

11 papers

NM_000053.4

p.R1320S

c.3960G>C

2 papers

NM_000053.4

p.I1321V

c.3961A>G

1 paper

NM_000053.4

p.T1317A

c.3949A>G

1 paper

NM_000053.4

p.R1316delFs

c.3948delC

1 paper

NM_000053.4

p.I1321R

c.3962T>G

1 paper

NM_000053.4

p.I1321T

c.3962T>C

1 paper

NM_000053.4

p.I1321K

c.3962T>A