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.R414R

c.1242A>G

Surrounding Variants

1 paper

NM_000053.4

p.A416V

c.1247C>T

3 papers

NM_000053.4

p.E412*

c.1234G>T

1 paper

NM_000053.4

p.E412K

c.1234G>A

2 papers

NM_000053.4

p.E411D

c.1233A>T

2 papers

NM_000053.4

p.E411D

c.1233A>C

2 papers

NM_000053.4

p.E418*

c.1252G>T

1 paper

NM_000053.4

p.E418K

c.1252G>A

2 papers

NM_000053.4

p.E411K

c.1231G>A

1 paper

NM_000053.4

p.E418A

c.1253A>C

2 papers

NM_000053.4

p.P410P

c.1230A>G

1 paper

NM_000053.4

p.D419N

c.1255G>A

4 papers

NM_000053.4

p.P410L

c.1229C>T