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

60 papers

NM_000053.4

p.V1216M

c.3646G>A

Surrounding Variants

1 paper

NM_000053.4

p.V1216A

c.3647T>C

1 paper

NM_000053.4

p.D1215D

c.3645C>T

2 papers

NM_000053.4

p.D1215G

c.3644A>G

6 papers

NM_000053.4

p.D1215Y

c.3643G>T

1 paper

NM_000053.4

p.V1214delFs

c.3641_3642delCA

1 paper

NM_000053.4

p.G1213_V1214del1

c.3639_3641delACA

1 paper

NM_000053.4

p.V1214L

c.3640G>T

1 paper

NM_000053.4

p.V1214L

c.3640G>C

2 papers

NM_000053.4

p.V1214M

c.3640G>A

3 papers

NM_000053.4

p.L1218P

c.3653T>C

4 papers

NM_000053.4

p.G1213V

c.3638G>T

1 paper

NM_000053.4

p.G1213D

c.3638G>A