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.Q447fs

c.1339_1340fs

Surrounding Variants

1 paper

NM_000053.4

p.Q447L

c.1340A>T

2 papers

NM_000053.4

p.Q447fs

c.1339_1340fs

1 paper

NM_000053.4

p.T448_T449insFs

c.1344_1345insC

6 papers

NM_000053.4

p.Q447_T448delFs

c.1340_1343del4

3 papers

NM_000053.4

p.V446L

c.1336G>T

4 papers

NM_000053.4

p.V446L

c.1336G>C

1 paper

NM_000053.4

p.M445R

c.1334T>G

1 paper

NM_000053.4

p.M445fs

c.1333_1334fs

1 paper

NM_000053.4

p.S444delFs

c.1332delG

1 paper

NM_000053.4

p.D450delFs

c.1349delT

3 papers

NM_000053.4

p.N443I

c.1328A>T

1 paper

NM_000053.4

p.G442G

c.1326G>T