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.R723G

c.2167A>G

Surrounding Variants

1 paper

NM_000053.4

p.L722del1

c.2164_2165delCAG

6 papers

NM_000053.4

p.R723fs

c.2167_2168fs

7 papers

NM_000053.4

p.L722insFs

c.2165dupT

3 papers

NM_000053.4

p.L722fs

c.2164_2165fs

1 paper

NM_000053.4

p.R723T

c.2168G>C

1 paper

NM_000053.4

p.S721_L722del1

c.2163_2165delAGA

4 papers

NM_000053.4

p.L722Q

c.2165T>A

1 paper

NM_000053.4

p.R723S

c.2169A>T

1 paper

NM_000053.4

p.R723S

c.2169A>C

2 papers

NM_000053.4

p.L722V

c.2164C>G

2 papers

NM_000053.4

p.L722insFs

c.2164_2165insT

1 paper

NM_000053.4

p.Y715_R723del0

c.2143_2169del27