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.L1304M

c.3910T>A

Surrounding Variants

2 papers

NM_000053.4

p.L1304F

c.3912G>T

2 papers

NM_000053.4

p.L1304F

c.3912G>C

1 paper

NM_000053.4

p.D1303A

c.3908A>C

13 papers

NM_000053.4

p.L1305P

c.3914T>C

1 paper

NM_000053.4

p.L1305Q

c.3914T>A

2 papers

NM_000053.4

p.D1306V

c.3917A>T

13 papers

NM_000053.4

p.R1301_N1302Splc

c.3904-2A>G

1 paper

NM_000053.4

p.R1301_N1302Splc

c.3904-3C>G

1 paper

NM_000053.4

p.V1307E

c.3920T>A

1 paper

NM_000053.4

p.V1308M

c.3922G>A

1 paper

NM_000053.4

p.V1308A

c.3923T>C

1 paper

NM_000053.4

p.V1307delFs

c.3921delC