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.N404fs

c.1210_1211fs

Surrounding Variants

3 papers

NM_000053.4

p.N404insFs

c.1211_1212insA

1 paper

NM_000053.4

p.N404insFs

c.1210_1211dupAA

1 paper

NM_000053.4

p.P405S

c.1213C>T

1 paper

NM_000053.4

p.P405L

c.1214C>T

1 paper

NM_000053.4

p.P405P

c.1215C>T

67 papers

NM_000053.4

p.S406A

c.1216T>G

1 paper

NM_000053.4

p.S406T

c.1216T>A

1 paper

NM_000053.4

p.L402_P405insFs

c.1206_1215dup10

2 papers

NM_000053.4

p.S406delFs

c.1218delA

1 paper

NM_000053.4

p.V407delFs

c.1219_1220delAC

1 paper

NM_000053.4

p.T400A

c.1198A>G

2 papers

NM_000053.4

p.A399A

c.1197A>T