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

2 papers

NM_000053.4

p.A1250G

c.3749C>G

Surrounding Variants

1 paper

NM_000053.4

p.A1250V

c.3749C>T

2 papers

NM_000053.4

p.V1249V

c.3747G>A

1 paper

NM_000053.4

p.K1251*

c.3751A>T

1 paper

NM_000053.4

p.K1251R

c.3752A>G

3 papers

NM_000053.4

p.K1248N

c.3744G>T

1 paper

NM_000053.4

p.K1248fs

c.3742_3743fs

3 papers

NM_000053.4

p.K1248N

c.3744G>C

2 papers

NM_000053.4

p.V1252I

c.3754G>A

1 paper

NM_000053.4

p.V1252A

c.3755T>C

1 paper

NM_000053.4

p.V1252delFs

c.3754delC

1 paper

NM_000053.4

p.K1248T

c.3743A>C

4 papers

NM_000053.4

p.H1247_K1248insFs

c.3741_3742dupCA