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

3 papers

NM_000053.4

p.I967F

c.2899A>T

Surrounding Variants

1 paper

NM_000053.4

p.I967V

c.2899A>G

1 paper

NM_000053.4

p.V966delFs

c.2897delA

1 paper

NM_000053.4

p.V966G

c.2897T>G

1 paper

NM_000053.4

p.I967I

c.2901C>A

1 paper

NM_000053.4

p.V966fs

c.2896_2897fs

1 paper

NM_000053.4

p.E965delFs

c.2894_2895delCT

1 paper

NM_000053.4

p.I968N

c.2903T>A

1 paper

NM_000053.4

p.T964_E965delFs

c.2891_2894del4

1 paper

NM_001330578.2

p.E887delFs

c.2659delC

10 papers

NM_000053.4

p.R969W

c.2905C>T

87 papers

NM_000053.4

p.R969Q

c.2906G>A

1 paper

NM_000053.4

p.R969delFs

c.2905delG