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.E30V

c.89A>T

Surrounding Variants

1 paper

NM_000053.4

p.E30K

c.88G>A

1 paper

NM_000053.4

p.W29*

c.87G>A

1 paper

NM_000053.4

p.P31S

c.91C>T

1 paper

NM_000053.4

p.W29*

c.86G>A

1 paper

NM_000053.4

p.A32T

c.94G>A

1 paper

NM_000053.4

p.S23_A28delFs

c.67_83del17

1 paper

NM_000053.4

p.A32V

c.95C>T

1 paper

NM_000053.4

p.A28D

c.83C>A

1 paper

NM_000053.4

p.A32A

c.96A>G

1 paper

NM_000053.4

p.M33R

c.98T>G

7 papers

NM_000053.4

p.M33T

c.98T>C

1 paper

NM_000053.4

p.R27H

c.80G>A