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

2 papers

NM_000053.4

p.V1265L

c.3793G>C

Surrounding Variants

2 papers

NM_000053.4

p.V1265L

c.3793G>T

2 papers

NM_000053.4

p.V1265M

c.3793G>A

1 paper

NM_000053.4

p.V1265G

c.3794T>G

2 papers

NM_000053.4

p.M1264T

c.3791T>C

2 papers

NM_000053.4

p.G1266W

c.3796G>T

23 papers

NM_000053.4

p.G1266R

c.3796G>C

23 papers

NM_000053.4

p.G1266R

c.3796G>A

4 papers

NM_000053.4

p.G1266V

c.3797G>T

4 papers

NM_000053.4

p.G1266E

c.3797G>A

2 papers

NM_000053.4

p.G1266G

c.3798G>T

1 paper

NM_000053.4

p.V1265_G1266insFs

c.3794_3797dup4

4 papers

NM_000053.4

p.A1263delFs

c.3787delC