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.A751D

c.2252C>A

Surrounding Variants

1 paper

NM_000053.4

p.A751A

c.2253T>C

4 papers

NM_000053.4

p.A751S

c.2251G>T

1 paper

NM_000053.4

p.V750delFs

c.2250delA

1 paper

NM_000053.4

p.V752M

c.2254G>A

2 papers

NM_000053.4

p.V752G

c.2255T>G

1 paper

NM_000053.4

p.V750_A751insG

c.2248_2252ins3

2 papers

NM_000053.4

p.V750I

c.2248G>A

1 paper

NM_000053.4

p.A753T

c.2257G>A

1 paper

NM_000053.4

p.V749E

c.2246T>A

2 papers

NM_000053.4

p.A753V

c.2258C>T

3 papers

NM_000053.4

p.A753insFs

c.2258_2259insC

1 paper

NM_000053.4

p.E754*

c.2260G>T