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.T858P

c.2572A>C

Surrounding Variants

4 papers

NM_000053.4

p.T858A

c.2572A>G

1 paper

NM_000053.4

p.T858K

c.2573C>A

2 papers

NM_000053.4

p.I857_T858del1

c.2570_2572delTGA

11 papers

NM_000053.4

p.I857T

c.2570T>C

1 paper

NM_000053.4

p.I857_T858del1

c.2571_2573delGTG

1 paper

NM_000053.4

p.G859*

c.2575G>T

1 paper

NM_000053.4

p.G859R

c.2575G>A

1 paper

NM_000053.4

p.G859Splc

c.2575+1G>C

1 paper

NM_000053.4

p.G859Splc

c.2575+1G>A

2 papers

NM_000053.4

p.L856R

c.2567T>G

2 papers

NM_000053.4

p.A852_S855del4

c.2554_2564del12

1 paper

NM_000053.4

p.G859Splc

c.2575+5G>C