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.L318H

c.953T>A

Surrounding Variants

1 paper

NM_000053.4

p.L318R

c.953T>G

2 papers

NM_000053.4

p.P319S

c.955C>T

1 paper

NM_000053.4

p.P319fs

c.955_956fs

1 paper

NM_000053.4

p.P319L

c.956C>T

1 paper

NM_000053.4

p.A317E

c.950C>A

1 paper

NM_000053.4

p.A317T

c.949G>A

3 papers

NM_000053.4

p.P319delFs

c.956delG

1 paper

NM_000053.4

p.P320fs

c.958_959fs

2 papers

NM_000053.4

p.E316D

c.948G>C

1 paper

NM_000053.4

p.P320S

c.958C>T

1 paper

NM_000053.4

p.P320P

c.960T>C

1 paper

NM_000053.4

p.P320delFs

c.959delG