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.S393Y

c.1178C>A

Surrounding Variants

1 paper

NM_000053.4

p.V392V

c.1176G>T

1 paper

NM_000053.4

p.L394S

c.1181T>C

2 papers

NM_000053.4

p.L394F

c.1182G>T

1 paper

NM_000053.4

p.V392L

c.1174G>T

2 papers

NM_000053.4

p.L394F

c.1182G>C

1 paper

NM_000053.4

p.V392L

c.1174G>C

1 paper

NM_000053.4

p.S391S

c.1173G>A

4 papers

NM_000053.4

p.S391L

c.1172C>T

1 paper

NM_000053.4

p.A395V

c.1184C>T

2 papers

NM_000053.4

p.A395A

c.1185C>T

6 papers

NM_000053.4

p.E396*

c.1186G>T

4 papers

NM_000053.4

p.E396Q

c.1186G>C