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.F121_E122insFs

c.363_364dupCG

Surrounding Variants

2 papers

NM_000053.4

p.E122V

c.365A>T

1 paper

NM_000053.4

p.E122G

c.365A>G

1 paper

NM_000053.4

p.E122*

c.364G>T

6 papers

NM_000053.4

p.E122fs

c.364_365fs

1 paper

NM_000053.4

p.G120_F121delFs

c.360_363del4

3 papers

NM_000053.4

p.E122delins

c.365_366delinsTTCGAAGC

2 papers

NM_000053.4

p.E122Fs

c.365_366delinsGGGCTTCGAAFs

2 papers

NM_000053.4

p.F121F

c.363C>T

3 papers

NM_000053.4

p.A123fs

c.367_368fs

1 paper

NM_000053.4

p.A123insFs

c.368_369ins8

1 paper

NM_000053.4

p.A123D

c.368C>A

3 papers

NM_000053.4

p.A123delFs

c.367delC