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

2 papers

NM_000053.4

p.E277V

c.830A>T

Surrounding Variants

1 paper

NM_000053.4

p.E277Q

c.829G>C

1 paper

NM_000053.4

p.N278D

c.832A>G

1 paper

NM_000053.4

p.I279V

c.835A>G

1 paper

NM_000053.4

p.N274delFs

c.820delT

1 paper

NM_000053.4

p.G280D

c.839G>A

1 paper

NM_000053.4

p.N274fs

c.820_821fs

1 paper

NM_000053.4

p.G280G

c.840C>T

1 paper

NM_000053.4

p.G280insFs

c.838dupG

3 papers

NM_000053.4

p.Q281*

c.841C>T

1 paper

NM_000053.4

p.V272_L273delFs

c.816_817delAG

1 paper

NM_000053.4

p.Q281delFs

c.841delG

1 paper

NM_000053.4

p.Q281fs

c.841_842fs