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

3 papers

NM_000053.4

p.G1341Splc

c.4021+3A>G

Surrounding Variants

1 paper

NM_000053.4

p.G1341Splc

c.4021+1G>T

1 paper

NM_000053.4

p.G1341Splc

c.4021+1G>A

2 papers

NM_000053.4

p.G1341R

c.4021G>C

14 papers

NM_000053.4

p.G1341S

c.4021G>A

1 paper

NM_000053.4

p.A1339S

c.4015G>T

1 paper

NM_000053.4

p.A1339P

c.4015G>C

1 paper

NM_000053.4

p.I1338I

c.4014T>C

11 papers

NM_000053.4

p.I1338I

c.4014T>A

1 paper

NM_000053.4

p.I1338S

c.4013T>G

1 paper

NM_000053.4

p.P1337H

c.4010C>A

2 papers

NM_000053.4

p.P1337A

c.4009C>G

1 paper

NM_000053.4

p.I1336fs

c.4006_4007fs