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.S55F

c.164C>T

Surrounding Variants

1 paper

NM_000053.4

p.S55P

c.163T>C

3 papers

NM_000053.4

p.Q56*

c.166C>T

1 paper

NM_000053.4

p.P53_S55delFs

c.159_165del7

1 paper

NM_000053.4

p.V57V

c.171G>C

1 paper

NM_000053.4

p.P53S

c.157C>T

4 papers

NM_000053.4

p.A58insFs

c.172_173insC

1 paper

NM_000053.4

p.G52D

c.155G>A

1 paper

NM_000053.4

p.A58V

c.173C>T

1 paper

NM_000053.4

p.V57del1

c.169_170delCAC

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.A58A

c.174C>T