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

1 paper

NM_007126.5

p.N296_A297insC

c.886_890ins3

Surrounding Variants

1 paper

NM_007126.5

p.N296H

c.886A>C

2 papers

NM_007126.5

p.E294Q

c.880G>C

1 paper

NM_007126.5

p.P298S

c.892C>T

1 paper

NM_007126.5

p.A293A

c.879T>A

1 paper

NM_007126.5

p.A293V

c.878C>T

2 papers

NM_007126.5

p.A293T

c.877G>A

2 papers

NM_007126.5

p.I300I

c.900C>T

1 paper

NM_007126.5

p.E291A

c.872A>C

1 paper

NM_007126.5

p.I301del1

c.901_902delGAT

1 paper

NM_007126.5

p.A289A

c.867C>A

2 papers

NM_007126.5

p.D304N

c.910G>A

39 papers

NM_007126.5

p.E305Q

c.913G>C