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

2 papers

NM_000053.4

p.Q260fs

c.778_779fs

Surrounding Variants

9 papers

NM_000053.4

p.Q260insFs

c.778dupC

1 paper

NM_000053.4

p.Q260delFs

c.778delG

2 papers

NM_000053.4

p.L259delFs

c.775delG

1 paper

NM_000053.4

p.H255_L259del0

c.764_775del12

1 paper

NM_000053.4

p.Q260Q

c.780A>G

1 paper

NM_000053.4

p.L261L

c.781C>T

1 paper

NM_000053.4

p.L261P

c.782T>C

1 paper

NM_000053.4

p.L261delFs

c.782delA

1 paper

NM_000053.4

p.T258A

c.772A>G

1 paper

NM_000053.4

p.V257F

c.769G>T

1 paper

NM_000053.4

p.H255_V256insFs

c.764_767dup4

1 paper

NM_000053.4

p.I263M

c.789A>G