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.A131G

c.392C>G

Surrounding Variants

1 paper

NM_000053.4

p.A131V

c.392C>T

2 papers

NM_000053.4

p.A131D

c.392C>A

1 paper

NM_000053.4

p.S132F

c.395C>T

1 paper

NM_000053.4

p.A130G

c.389C>G

1 paper

NM_000053.4

p.K129delFs

c.387delC

1 paper

NM_000053.4

p.W133G

c.397T>G

1 paper

NM_000053.4

p.W133R

c.397T>C

1 paper

NM_000053.4

p.W133R

c.397T>A

1 paper

NM_000053.4

p.W133fs

c.397_398fs

1 paper

NM_000053.4

p.W133*

c.398G>A

3 papers

NM_000053.4

p.W133delFs

c.397delA

1 paper

NM_000053.4

p.W133*

c.399G>A