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.K1020_I1021Splc

c.3061-2A>G

Surrounding Variants

13 papers

NM_000053.4

p.K1020_I1021Splc

c.3061-1G>A

3 papers

NM_000053.4

p.K1020_I1021Splc

c.3061-3C>A

5 papers

NM_000053.4

p.I1021V

c.3061A>G

1 paper

NM_000053.4

p.I1021fs

c.3061_3062fs

2 papers

NM_000053.4

p.I1021K

c.3062T>A

1 paper

NM_000053.4

p.I1021M

c.3063A>G

1 paper

NM_000053.4

p.T1023A

c.3067A>G

2 papers

NM_000053.4

p.T1023T

c.3069T>C

9 papers

NM_000053.4

p.K1020_I1021Splc

c.3061-12T>A

1 paper

NM_000053.4

p.V1024fs

c.3070_3071fs

2 papers

NM_000053.4

p.V1024A

c.3071T>C

1 paper

NM_000053.4

p.T1023_V1024del1

c.3068_3070delCAG