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.N33K

c.99T>G

Surrounding Variants

1 paper

NM_007126.5

p.N33K

c.99T>A

1 paper

NM_007126.5

p.N33Y

c.97A>T

1 paper

NM_007126.5

p.D35Y

c.103G>T

1 paper

NM_007126.5

p.D35N

c.103G>A

1 paper

NM_007126.5

p.D35A

c.104A>C

1 paper

NM_007126.5

p.D35E

c.105C>A

1 paper

NM_007126.5

p.A31T

c.91G>A

1 paper

NM_007126.5

p.E30_A31insFs

c.90_91ins4

1 paper

NM_007126.5

p.S37C

c.109A>T

1 paper

NM_007126.5

p.S37R

c.109A>C

1 paper

NM_007126.5

p.S37T

c.110G>C

1 paper

NM_007126.5

p.E30K

c.88G>A