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.L51L

c.151C>T

Surrounding Variants

1 paper

NM_000053.4

p.G50G

c.150C>T

1 paper

NM_000053.4

p.G50V

c.149G>T

2 papers

NM_000053.4

p.G50D

c.149G>A

1 paper

NM_000053.4

p.G50_L51insG

c.148_152ins3

1 paper

NM_000053.4

p.G52R

c.154G>C

1 paper

NM_000053.4

p.G52S

c.154G>A

1 paper

NM_000053.4

p.G52D

c.155G>A

1 paper

NM_000053.4

p.P53S

c.157C>T

1 paper

NM_000053.4

p.L48L

c.144G>A

2 papers

NM_000053.4

p.L48P

c.143T>C

1 paper

NM_000053.4

p.G47A

c.140G>C

1 paper

NM_000053.4

p.G47D

c.140G>A