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

2 papers

NM_000053.4

p.T1208M

c.3623C>T

Surrounding Variants

1 paper

NM_000053.4

p.Q1200_T1208del0

c.3599_3622del24

1 paper

NM_000053.4

p.T1208T

c.3624G>T

1 paper

NM_000053.4

p.T1208T

c.3624G>A

1 paper

NM_000053.4

p.T1208A

c.3622A>G

1 paper

NM_000053.4

p.L1209L

c.3625C>T

1 paper

NM_000053.4

p.Q1200_T1208del0

c.3600_3623del24

1 paper

NM_000053.4

p.L1209Q

c.3626T>A

22 papers

NM_000053.4

p.H1207R

c.3620A>G

1 paper

NM_000053.4

p.H1207Y

c.3619C>T

1 paper

NM_000053.4

p.H1207fs

c.3619_3620fs

1 paper

NM_000053.4

p.V1206V

c.3618G>A

1 paper

NM_000053.4

p.V1206insFs

c.3617_3618insA