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

4 papers

NM_000053.4

p.N41D

c.121A>G

Surrounding Variants

1 paper

NM_000053.4

p.D40E

c.120C>A

46 papers

NM_000053.4

p.N41S

c.122A>G

1 paper

NM_000053.4

p.N41fs

c.121_122fs

1 paper

NM_000053.4

p.N41delFs

c.122delT

1 paper

NM_000053.4

p.D40A

c.119A>C

1 paper

NM_000053.4

p.D40insFs

c.119_120ins5

1 paper

NM_000053.4

p.D40insFs

c.119_120ins5

3 papers

NM_000053.4

p.D40insFs

c.118_119ins5

2 papers

NM_000053.4

p.V42I

c.124G>A

1 paper

NM_000053.4

p.F39L

c.117T>G

1 paper

NM_000053.4

p.F39F

c.117T>C

1 paper

NM_000053.4

p.F39L

c.117T>A