Varaico: Literature-Extracted Genetic Variants

VCP

1,387 papers

RefSeq Summary

This gene encodes a member of the AAA ATPase family of proteins. The encoded protein plays a role in protein degradation, intracellular membrane fusion, DNA repair and replication, regulation of the c...

Pfam Domains

CDC48_Naa 1–63UCSCCell division protein 48 (CDC48), N-terminal domain

CDC48_2aa 80–146UCSCCell division protein 48 (CDC48), domain 2

AAAaa 196–326UCSCATPase family associated with various cellular activities (AAA)

AAA_lid_3aa 348–392UCSCAAA+ lid domain

AAAaa 469–602UCSCATPase family associated with various cellular activities (AAA)

AAA_lid_3aa 624–667UCSCAAA+ lid domain

Gene Aliases

HGNC Name

valosin containing protein

HGNC Alias Symbols

IBMPFD; p97; CDC48; TERA

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_007126.5

p.I233V

c.697A>G

Surrounding Variants

1 paper

NM_007126.5

p.A232G

c.695C>G

154 papers

NM_007126.5

p.A232E

c.695C>A

1 paper

NM_007126.5

p.G234insFs

c.701dupG

1 paper

NM_007126.5

p.K231R

c.692A>G

4 papers

NM_007126.5

p.F230I

c.688T>A

1 paper

NM_007126.5

p.K236Q

c.706A>C

1 paper

NM_007126.5

p.K236_P237Splc

c.708+1G>A

1 paper

NM_007126.5

p.L229F

c.685C>T

1 paper

NM_007126.5

p.H226R

c.677A>G

1 paper

NM_007126.5

p.L222_P223ins1

c.666_667insGGC

1 paper

NM_007126.5

p.V220A

c.659T>C

1 paper

NM_007126.5

p.V220M

c.658G>A