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

3 papers

NM_000053.4

p.C358delFs

c.1073delC

Surrounding Variants

1 paper

NM_000053.4

p.S359_T360ins5

c.1075_1079ins15

2 papers

NM_000053.4

p.C358fs

c.1072_1073fs

1 paper

NM_000053.4

p.T357T

c.1071A>T

1 paper

NM_000053.4

p.T357T

c.1071A>G

1 paper

NM_000053.4

p.T360S

c.1079C>G

1 paper

NM_000053.4

p.G356insFs

c.1068dupC

1 paper

NM_000053.4

p.G356G

c.1068C>A

1 paper

NM_000053.4

p.T361I

c.1082C>T

1 paper

NM_000053.4

p.Q355Q

c.1065G>A

1 paper

NM_000053.4

p.Q355R

c.1064A>G

6 papers

NM_000053.4

p.Q355*

c.1063C>T

1 paper

NM_000053.4

p.Q355_G356ins9

c.1063_1067ins27