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

4 papers

NM_000053.4

p.Y713C

c.2138A>G

Surrounding Variants

2 papers

NM_000053.4

p.Y713*

c.2139C>G

1 paper

NM_000053.4

p.Y713*

c.2139C>A

2 papers

NM_000053.4

p.F714L

c.2140T>C

1 paper

NM_000053.4

p.W712C

c.2136G>T

1 paper

NM_000053.4

p.W712C

c.2136G>C

3 papers

NM_000053.4

p.W712*

c.2136G>A

1 paper

NM_000053.4

p.F714Y

c.2141T>A

1 paper

NM_000053.4

p.Y713_F714del1

c.2138_2140delAGT

3 papers

NM_000053.4

p.W712*

c.2135G>A

1 paper

NM_000053.4

p.G711delins

c.2132_2133delinsGG

3 papers

NM_000053.4

p.F714L

c.2142C>G

2 papers

NM_000053.4

p.F714L

c.2142C>A