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.A1193P

c.3577G>C

Surrounding Variants

1 paper

NM_000053.4

p.A1193T

c.3577G>A

1 paper

NM_000053.4

p.I1192I

c.3576C>T

1 paper

NM_000053.4

p.A1193delFs

c.3578delG

1 paper

NM_000053.4

p.I1194V

c.3580A>G

1 paper

NM_000053.4

p.I1194I

c.3582C>T

1 paper

NM_000053.4

p.A1195S

c.3583G>T

2 papers

NM_000053.4

p.A1195T

c.3583G>A

3 papers

NM_000053.4

p.A1195V

c.3584C>T

2 papers

NM_000053.4

p.C1189delFs

c.3565_3566delCA

1 paper

NM_000053.4

p.G1190R

c.3568G>A

1 paper

NM_000053.4

p.C1189delFs

c.3567delA

1 paper

NM_000053.4

p.C1189fs

c.3565_3566fs