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.A486S

c.1456G>T

Surrounding Variants

1 paper

NM_000053.4

p.A486V

c.1457C>T

6 papers

NM_000053.4

p.R483_A486delFs

c.1449_1456del8

1 paper

NM_000053.4

p.A486A

c.1458A>T

1 paper

NM_000053.4

p.P487L

c.1460C>T

2 papers

NM_000053.4

p.P487P

c.1461G>A

1 paper

NM_000053.4

p.A484T

c.1450G>A

3 papers

NM_000053.4

p.R483R

c.1449A>G

2 papers

NM_000053.4

p.R483I

c.1448G>T

2 papers

NM_000053.4

p.R483fs

c.1447_1448fs

1 paper

NM_000053.4

p.T482T

c.1446C>T

1 paper

NM_000053.4

p.C490W

c.1470C>G

1 paper

NM_000053.4

p.S481*

c.1442C>G