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

2 papers

NM_000053.4

p.T306_L311delFs

c.918_931del14

Surrounding Variants

1 paper

NM_000053.4

p.L311P

c.932T>C

1 paper

NM_000053.4

p.A310A

c.930T>A

1 paper

NM_000053.4

p.Q312*

c.934C>T

1 paper

NM_000053.4

p.L311delFs

c.933delC

1 paper

NM_000053.4

p.A310V

c.929C>T

1 paper

NM_000053.4

p.A310fs

c.928_929fs

3 papers

NM_000053.4

p.Q312H

c.936G>T

3 papers

NM_000053.4

p.Q312H

c.936G>C

1 paper

NM_000053.4

p.R313W

c.937A>T

1 paper

NM_000053.4

p.V309L

c.925G>T

1 paper

NM_000053.4

p.V309L

c.925G>C

1 paper

NM_000053.4

p.V309M

c.925G>A