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

6 papers

NM_000053.4

p.A1183T

c.3547G>A

Surrounding Variants

10 papers

NM_000053.4

p.A1183G

c.3548C>G

1 paper

NM_000053.4

p.A1183delFs

c.3547_3548delGC

1 paper

NM_000053.4

p.I1184V

c.3550A>G

1 paper

NM_000053.4

p.I1184insFs

c.3551_3552insA

7 papers

NM_000053.4

p.I1184T

c.3551T>C

1 paper

NM_000053.4

p.I1184fs

c.3550_3551fs

1 paper

NM_000053.4

p.L1181P

c.3542T>C

1 paper

NM_000053.4

p.L1181Q

c.3542T>A

2 papers

NM_000053.4

p.D1185insFs

c.3553_3554insT

2 papers

NM_001243182.2

p.I1069I

c.3207C>A

1 paper

NM_000053.4

p.I1180T

c.3539T>C

1 paper

NM_000053.4

p.I1180delFs

c.3538delT