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.L824R

c.2471T>G

Surrounding Variants

2 papers

NM_000053.4

p.L824P

c.2471T>C

1 paper

NM_000053.4

p.L824L

c.2472G>A

2 papers

NM_000053.4

p.E823D

c.2469G>T

1 paper

NM_000053.4

p.V825L

c.2473G>T

1 paper

NM_000053.4

p.V825L

c.2473G>C

1 paper

NM_000053.4

p.E823D

c.2469G>C

1 paper

NM_000053.4

p.V825A

c.2474T>C

2 papers

NM_000053.4

p.E823G

c.2468A>G

1 paper

NM_000053.4

p.V825V

c.2475G>A

1 paper

NM_000053.4

p.E823K

c.2467G>A

4 papers

NM_000053.4

p.M822fs

c.2464_2465fs

2 papers

NM_000053.4

p.M822insFs

c.2464_2465insA