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.G66S

c.196G>A

Surrounding Variants

1 paper

NM_000053.4

p.G66C

c.196G>T

1 paper

NM_000053.4

p.G66D

c.197G>A

1 paper

NM_000053.4

p.I64_L65insFs

c.192_193dupCT

1 paper

NM_000053.4

p.L65S

c.194T>C

1 paper

NM_000053.4

p.T59_I64delFs

c.176_191del16

1 paper

NM_000053.4

p.L65fs

c.193_194fs

4 papers

NM_000053.4

p.M67V

c.199A>G

1 paper

NM_000053.4

p.R63M

c.188G>T

1 paper

NM_000053.4

p.C69G

c.205T>G

1 paper

NM_000053.4

p.R63_I64insGGC

c.187_191ins9

1 paper

NM_000053.4

p.C69*

c.207C>A

2 papers

NM_000053.4

p.S60_T61delFs

c.180_181delTG