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

26 papers

NM_000053.4

p.R1151C

c.3451C>T

Surrounding Variants

2 papers

NM_000053.4

p.R1151G

c.3451C>G

1 paper

NM_000053.4

p.R1151S

c.3451C>A

28 papers

NM_000053.4

p.R1151H

c.3452G>A

1 paper

NM_000053.4

p.N1150K

c.3450C>A

4 papers

NM_000053.4

p.G1149delFs

c.3447delT

1 paper

NM_000053.4

p.N1150I

c.3449A>T

1 paper

NM_000053.4

p.T1143_G1149del7

c.3427_3446del21

2 papers

NM_000053.4

p.S1145_R1151del7

c.3433_3452del21

1 paper

NM_000053.4

p.E1152A

c.3455A>C

1 paper

NM_000053.4

p.E1152D

c.3456G>T

7 papers

NM_000053.4

p.G1149A

c.3446G>C

1 paper

NM_000053.4

p.E1152D

c.3456G>C