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.K74del1

c.220_222delCTT

Surrounding Variants

1 paper

NM_000053.4

p.K74N

c.222G>T

1 paper

NM_000053.4

p.K74fs

c.220_221fs

1 paper

NM_000053.4

p.K74N

c.222G>C

1 paper

NM_000053.4

p.S75F

c.224C>T

1 paper

NM_000053.4

p.I76V

c.226A>G

1 paper

NM_000053.4

p.I76T

c.227T>C

1 paper

NM_000053.4

p.E77*

c.229G>T

4 papers

NM_000053.4

p.E77insFs

c.229_230insC

4 papers

NM_000053.4

p.V73fs

c.217_218fs

3 papers

NM_000053.4

p.C72*

c.216T>A

8 papers

NM_000053.4

p.S71_C72delFs

c.213_214delAT

2 papers

NM_000053.4

p.S71S

c.213A>G