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

10 papers

NM_000053.4

p.T1288R

c.3863C>G

Surrounding Variants

4 papers

NM_000053.4

p.T1288M

c.3863C>T

1 paper

NM_000053.4

p.T1288T

c.3864G>A

1 paper

NM_000053.4

p.D1289N

c.3865G>A

1 paper

NM_000053.4

p.G1287G

c.3861C>G

1 paper

NM_000053.4

p.G1287D

c.3860G>A

1 paper

NM_000053.4

p.D1289V

c.3866A>T

18 papers

NM_000053.4

p.G1287S

c.3859G>A

1 paper

NM_000053.4

p.T1286_D1289del4

c.3856_3866del12

1 paper

NM_000053.4

p.T1286T

c.3858C>T

2 papers

NM_000053.4

p.T1286I

c.3857C>T

1 paper

NM_000053.4

p.T1286P

c.3856A>C

2 papers

NM_000053.4

p.A1291T

c.3871G>A