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.R1041R

c.3123G>C

Surrounding Variants

9 papers

NM_000053.4

p.R1041P

c.3122G>C

1 paper

NM_000053.4

p.V1042fs

c.3124_3125fs

1 paper

NM_001330578.2

p.R963delFs

c.2887delG

1 paper

NM_000053.4

p.V1042delFs

c.3124delC

31 papers

NM_000053.4

p.R1041W

c.3121C>T

10 papers

NM_000053.4

p.L1043P

c.3128T>C

1 paper

NM_000053.4

p.L1043L

c.3129C>T

1 paper

NM_000053.4

p.L1043L

c.3129C>G

1 paper

NM_000053.4

p.V1039delFs

c.3115delC

3 papers

NM_000053.4

p.L1044P

c.3131T>C

1 paper

NM_000053.4

p.V1039F

c.3115G>T

1 paper

NM_000053.4

p.R1038R

c.3114G>A