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

5 papers

NM_000053.4

p.N1332D

c.3994A>G

NM_001330579.2

p.N1248D

c.3742A>G

Surrounding Variants

4 papers

NM_000053.4

p.Y1331*

c.3993T>G

2 papers

NM_000053.4

p.Y1331*

c.3993T>A

2 papers

NM_000053.4

p.N1332K

c.3996C>G

2 papers

NM_000053.4

p.N1332K

c.3996C>A

1 paper

NM_000053.4

p.Y1331C

c.3992A>G

3 papers

NM_000053.4

p.Y1331S

c.3992A>C

1 paper

NM_000053.4

p.Y1331fs

c.3991_3992fs

1 paper

NM_000053.4

p.L1333P

c.3998T>C

2 papers

NM_000053.4

p.L1333L

c.3999G>T

2 papers

NM_001330579.2

p.L1249L

c.3747G>A

NM_000053.4

p.L1333L

c.3999G>A

1 paper

NM_000053.4

p.V1334fs

c.4000_4001fs

1 paper

NM_000053.4

p.V1334insFs

c.4001_4002ins34