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

9 papers

NM_000053.4

p.H1247Q

c.3741C>G

Surrounding Variants

8 papers

NM_000053.4

p.H1247Q

c.3741C>A

3 papers

NM_000053.4

p.K1248fs

c.3742_3743fs

3 papers

NM_000053.4

p.K1248E

c.3742A>G

1 paper

NM_000053.4

p.H1247R

c.3740A>G

1 paper

NM_000053.4

p.H1247P

c.3740A>C

1 paper

NM_000053.4

p.K1248insFs

c.3742_3743insCA

1 paper

NM_000053.4

p.K1248T

c.3743A>C

4 papers

NM_000053.4

p.H1247_K1248insFs

c.3741_3742dupCA

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

1 paper

NM_000053.4

p.S1246S

c.3738G>A