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.V1187M

c.3559G>A

Surrounding Variants

1 paper

NM_000053.4

p.G1186V

c.3557G>T

1 paper

NM_000053.4

p.G1186D

c.3557G>A

5 papers

NM_000053.4

p.G1186C

c.3556G>T

4 papers

NM_000053.4

p.G1186R

c.3556G>C

23 papers

NM_000053.4

p.G1186S

c.3556G>A

5 papers

NM_000053.4

p.L1188F

c.3562C>T

2 papers

NM_000053.4

p.L1188R

c.3563T>G

1 paper

NM_000053.4

p.L1188P

c.3563T>C

3 papers

NM_000053.4

p.G1186Splc

c.3557-2A>G

1 paper

NM_000053.4

p.L1188L

c.3564C>G

1 paper

NM_000053.4

p.C1189fs

c.3565_3566fs

1 paper

NM_000053.4

p.C1189C

c.3567T>C