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.R758K

c.2273G>A

Surrounding Variants

5 papers

NM_000053.4

p.R758M

c.2273G>T

1 paper

NM_000053.4

p.R758G

c.2272A>G

2 papers

NM_000053.4

p.S759N

c.2276G>A

6 papers

NM_000053.4

p.A756A

c.2268G>A

2 papers

NM_000053.4

p.P760S

c.2278C>T

12 papers

NM_000053.4

p.P760L

c.2279C>T

11 papers

NM_000053.4

p.A756V

c.2267C>T

9 papers

NM_000053.4

p.A756G

c.2267C>G

1 paper

NM_000053.4

p.V761L

c.2281G>T

1 paper

NM_000053.4

p.V761L

c.2281G>C

1 paper

NM_000053.4

p.V761A

c.2282T>C

1 paper

NM_000053.4

p.V761E

c.2282T>A