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.Y44C

c.131A>G

Surrounding Variants

1 paper

NM_000053.4

p.Y44F

c.131A>T

4 papers

NM_000053.4

p.Y44N

c.130T>A

1 paper

NM_000053.4

p.E45*

c.133G>T

2 papers

NM_000053.4

p.E45K

c.133G>A

1 paper

NM_000053.4

p.G43_Y44insFs

c.129_130insG

1 paper

NM_000053.4

p.G43insFs

c.127_128ins5

1 paper

NM_000053.4

p.G43A

c.128G>C

1 paper

NM_000053.4

p.E45A

c.134A>C

1 paper

NM_000053.4

p.E45delFs

c.133delC

2 papers

NM_000053.4

p.G43S

c.127G>A

1 paper

NM_000053.4

p.E45_G46insFs

c.135_136insC

1 paper

NM_000053.4

p.G46insFs

c.137_138insC