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.Q110insFs

c.328dupC

Surrounding Variants

2 papers

NM_000053.4

p.Q110*

c.328C>T

1 paper

NM_000053.4

p.Q110fs

c.328_329fs

2 papers

NM_000053.4

p.Q110fs

c.328_329fs

1 paper

NM_000053.4

p.L109insFs

c.326dupT

1 paper

NM_000053.4

p.L109L

c.327G>A

1 paper

NM_000053.4

p.S105_L109delFs

c.313_326del14

9 papers

NM_000053.4

p.Q111*

c.331C>T

5 papers

NM_000053.4

p.Q110delFs

c.330delT

1 paper

NM_000053.4

p.Q111H

c.333G>T

2 papers

NM_000053.4

p.L109L

c.325C>T

2 papers

NM_000053.4

p.C108Y

c.323G>A

1 paper

NM_000053.4

p.C108G

c.322T>G