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.D337A

c.1010A>C

Surrounding Variants

1 paper

NM_000053.4

p.D337N

c.1009G>A

3 papers

NM_000053.4

p.S340A

c.1018T>G

1 paper

NM_000053.4

p.S340T

c.1018T>A

1 paper

NM_000053.4

p.S340F

c.1019C>T

1 paper

NM_000053.4

p.S340Y

c.1019C>A

2 papers

NM_000053.4

p.S341A

c.1021T>G

1 paper

NM_000053.4

p.G333G

c.999G>T

1 paper

NM_000053.4

p.G333A

c.998G>C

1 paper

NM_000053.4

p.G333E

c.998G>A

4 papers

NM_000053.4

p.G333R

c.997G>C

4 papers

NM_000053.4

p.G333R

c.997G>A

1 paper

NM_000053.4

p.E332G

c.995A>G