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.A58A

c.174C>T

Surrounding Variants

1 paper

NM_000053.4

p.A58fs

c.172_173fs

1 paper

NM_000053.4

p.A58V

c.173C>T

1 paper

NM_000053.4

p.V57del1

c.169_170delCAC

2 papers

NM_000053.4

p.T59fs

c.175_176fs

4 papers

NM_000053.4

p.A58insFs

c.174dupC

1 paper

NM_000053.4

p.V57_A58insFs

c.171_174dup4

1 paper

NM_000053.4

p.A58delFs

c.174delG

4 papers

NM_000053.4

p.A58insFs

c.172_173insC

1 paper

NM_000053.4

p.T59I

c.176C>T

1 paper

NM_000053.4

p.V57V

c.171G>C

2 papers

NM_000053.4

p.S60N

c.179G>A

2 papers

NM_000053.4

p.T61fs

c.181_182fs