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.H889P

c.2666A>C

Surrounding Variants

1 paper

NM_000053.4

p.H889H

c.2667C>T

1 paper

NM_000053.4

p.H889Y

c.2665C>T

1 paper

NM_000053.4

p.H889D

c.2665C>G

1 paper

NM_000053.4

p.H889fs

c.2665_2666fs

31 papers

NM_000053.4

p.V890M

c.2668G>A

1 paper

NM_000053.4

p.T888I

c.2663C>T

30 papers

NM_000053.4

p.T888P

c.2662A>C

1 paper

NM_000053.4

p.A887insFs

c.2660_2661insC

1 paper

NM_000053.4

p.G891S

c.2671G>A

2 papers

NM_000053.4

p.V890delFs

c.2669_2670delCA

7 papers

NM_000053.4

p.G891V

c.2672G>T

1 paper

NM_000053.4

p.G891insFs

c.2672_2673ins29