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.T1023_V1024del1

c.3068_3070delCAG

Surrounding Variants

2 papers

NM_000053.4

p.V1024A

c.3071T>C

1 paper

NM_000053.4

p.V1024fs

c.3070_3071fs

2 papers

NM_000053.4

p.T1023T

c.3069T>C

2 papers

NM_000053.4

p.V1024delFs

c.3071_3072delCA

2 papers

NM_000053.4

p.M1025R

c.3074T>G

1 paper

NM_000053.4

p.T1023A

c.3067A>G

2 papers

NM_000053.4

p.F1026Y

c.3077T>A

2 papers

NM_000053.4

p.D1027Y

c.3079G>T

7 papers

NM_000053.4

p.D1027H

c.3079G>C

5 papers

NM_000053.4

p.D1027N

c.3079G>A

1 paper

NM_000053.4

p.I1021M

c.3063A>G

2 papers

NM_000053.4

p.I1021K

c.3062T>A