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.P767fs

c.2299_2300fs

Surrounding Variants

6 papers

NM_000053.4

p.P767S

c.2299C>T

6 papers

NM_000053.4

p.P767insFs

c.2299_2300insG

1 paper

NM_000053.4

p.P767insFs

c.2299_2300insGC

17 papers

NM_000053.4

p.T766_P767insFs

c.2298_2299insC

1 paper

NM_000053.4

p.T766fs

c.2296_2297fs

2 papers

NM_000053.4

p.T766T

c.2298G>A

5 papers

NM_000053.4

p.P767L

c.2300C>T

3 papers

NM_000053.4

p.P767R

c.2300C>G

1 paper

NM_000053.4

p.P767insFs

c.2299_2300insCA

23 papers

NM_000053.4

p.T766M

c.2297C>T

1 paper

NM_000053.4

p.P767P

c.2301C>T

14 papers

NM_000053.4

p.T766R

c.2297C>G