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.E507fs

c.1519_1520fs

Surrounding Variants

3 papers

NM_000053.4

p.R508T

c.1523G>C

3 papers

NM_000053.4

p.I506delFs

c.1516_1517delAT

4 papers

NM_000053.4

p.I506_R508delFs

c.1518_1522del5

1 paper

NM_000053.4

p.E507fs

c.1519_1520fs

2 papers

NM_000053.4

p.R508R

c.1524G>A

2 papers

NM_000053.4

p.I506_E507delFs

c.1518_1521del4

1 paper

NM_000053.4

p.I506K

c.1517T>A

2 papers

NM_000053.4

p.I506fs

c.1516_1517fs

4 papers

NM_000053.4

p.N505_I506insFs

c.1515_1516insT

1 paper

NM_000053.4

p.N505insFs

c.1514_1515insT

1 paper

NM_000053.4

p.L510R

c.1529T>G

1 paper

NM_000053.4

p.L510P

c.1529T>C