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.I1148N

c.3443T>A

Surrounding Variants

97 papers

NM_000053.4

p.I1148T

c.3443T>C

7 papers

NM_000053.4

p.G1149R

c.3445G>C

7 papers

NM_000053.4

p.G1149R

c.3445G>A

7 papers

NM_000053.4

p.G1149A

c.3446G>C

12 papers

NM_000053.4

p.G1149E

c.3446G>A

1 paper

NM_000053.4

p.V1146delFs

c.3437_3438delCA

1 paper

NM_000053.4

p.V1146A

c.3437T>C

1 paper

NM_000053.4

p.N1150I

c.3449A>T

1 paper

NM_000053.4

p.T1143_G1149del7

c.3427_3446del21

26 papers

NM_000053.4

p.V1146M

c.3436G>A

1 paper

NM_000053.4

p.N1150K

c.3450C>A

4 papers

NM_000053.4

p.G1149delFs

c.3447delT