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.K167*

c.499A>T

Surrounding Variants

1 paper

NM_000053.4

p.K167E

c.499A>G

2 papers

NM_000053.4

p.R166Q

c.497G>A

3 papers

NM_000053.4

p.R166W

c.496C>T

1 paper

NM_000053.4

p.S159_V165del7

c.475_494del21

7 papers

NM_000053.4

p.L168P

c.503T>C

1 paper

NM_000053.4

p.Q169*

c.505C>T

1 paper

NM_000053.4

p.Q169K

c.505C>A

1 paper

NM_000053.4

p.K164N

c.492G>T

1 paper

NM_000053.4

p.K164N

c.492G>C

1 paper

NM_000053.4

p.G170*

c.508G>T

2 papers

NM_000053.4

p.G170R

c.508G>A

4 papers

NM_000053.4

p.Q169delFs

c.507delT