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

6 papers

NM_000053.4

p.I582fs

c.1744_1745fs

Surrounding Variants

1 paper

NM_000053.4

p.N581_I582insFs

c.1743_1744insC

2 papers

NM_000053.4

p.N581_I582insFs

c.1743_1744insCA

1 paper

NM_000053.4

p.I582R

c.1745T>G

1 paper

NM_000053.4

p.I582fs

c.1744_1745fs

1 paper

NM_000053.4

p.E583insFs

c.1747_1748insT

4 papers

NM_000053.4

p.I582insFs

c.1746dupA

1 paper

NM_000053.4

p.E583Q

c.1747G>C

13 papers

NM_000053.4

p.I582delFs

c.1745_1746delTA

4 papers

NM_000053.4

p.E583fs

c.1747_1748fs

1 paper

NM_000053.4

p.N581fs

c.1741_1742fs

3 papers

NM_000053.4

p.N581Y

c.1741A>T

1 paper

NM_000053.4

p.N581D

c.1741A>G