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.A1074S

c.3220G>T

Surrounding Variants

4 papers

NM_000053.4

p.A1074T

c.3220G>A

1 paper

NM_000053.4

p.V1073ins1

c.3218_3219insTAC

1 paper

NM_000053.4

p.V1073V

c.3219G>A

4 papers

NM_000053.4

p.A1074V

c.3221C>T

1 paper

NM_000053.4

p.A1074E

c.3221C>A

2 papers

NM_000053.4

p.V1075A

c.3224T>C

1 paper

NM_000053.4

p.G1072V

c.3215G>T

1 paper

NM_000053.4

p.G1072D

c.3215G>A

1 paper

NM_000053.4

p.G1072C

c.3214G>T

1 paper

NM_000053.4

p.G1072S

c.3214G>A

1 paper

NM_001005918.3

p.V868delFs

c.2604delG

5 papers

NM_000053.4

p.T1076I

c.3227C>T

NM_001330579.2

p.T992I

c.2975C>T