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

56 papers

NM_000053.4

p.L708P

c.2123T>C

Surrounding Variants

3 papers

NM_000053.4

p.Q707_L708Splc

c.2122-1G>T

4 papers

NM_000053.4

p.Q707_L708Splc

c.2122-1G>C

2 papers

NM_000053.4

p.Q707_L708Splc

c.2122-1G>A

2 papers

NM_000053.4

p.Q707_L708Splc

c.2122-2A>G

1 paper

NM_000053.4

p.Q707_L708Splc

c.2122-3C>T

1 paper

NM_000053.4

p.L709L

c.2127C>A

2 papers

NM_000053.4

p.G710C

c.2128G>T

7 papers

NM_000053.4

p.G710R

c.2128G>C

72 papers

NM_000053.4

p.G710S

c.2128G>A

5 papers

NM_000053.4

p.G710V

c.2129G>T

14 papers

NM_000053.4

p.G710A

c.2129G>C

1 paper

NM_000053.4

p.G710D

c.2129G>A