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.D918A

c.2753A>C

Surrounding Variants

1 paper

NM_000053.4

p.D918G

c.2753A>G

9 papers

NM_000053.4

p.D918N

c.2752G>A

3 papers

NM_000053.4

p.D918E

c.2754C>G

3 papers

NM_000053.4

p.D918E

c.2754C>A

26 papers

NM_000053.4

p.R919W

c.2755C>T

82 papers

NM_000053.4

p.R919G

c.2755C>G

1 paper

NM_000053.4

p.R919L

c.2756G>T

2 papers

NM_000053.4

p.R919Q

c.2756G>A

1 paper

NM_000053.4

p.A917S

c.2749G>T

1 paper

NM_000053.4

p.L916L

c.2748G>A

3 papers

NM_000053.4

p.P912_L916delFs

c.2736_2746del11

1 paper

NM_000053.4

p.Q915Q

c.2745G>A