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.D642E

c.1926C>A

Surrounding Variants

1 paper

NM_000053.4

p.D642E

c.1926C>G

3 papers

NM_000053.4

p.D642G

c.1925A>G

5 papers

NM_000053.4

p.D642Y

c.1924G>T

19 papers

NM_001406546.1

p.E623_S624Splc

c.1869+3013G>C

NM_000053.4

p.D642H

c.1924G>C

1 paper

NM_000053.4

p.L641F

c.1923G>T

17 papers

NM_000053.4

p.L641S

c.1922T>C

1 paper

NM_000053.4

p.K644E

c.1930A>G

1 paper

NM_000053.4

p.K644R

c.1931A>G

1 paper

NM_000053.4

p.K644insFs

c.1931dupA

1 paper

NM_000053.4

p.M645L

c.1933A>T

1 paper

NM_000053.4

p.M645L

c.1933A>C

85 papers

NM_000053.4

p.M645R

c.1934T>G