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.D107A

c.320A>C

Surrounding Variants

1 paper

NM_007126.5

p.D107E

c.321T>G

1 paper

NM_007126.5

p.D107E

c.321T>A

1 paper

NM_007126.5

p.V108E

c.323T>A

2 papers

NM_007126.5

p.V108delFs

c.324delC

1 paper

NM_007126.5

p.K109R

c.326A>G

1 paper

NM_007126.5

p.C105R

c.313T>C

2 papers

NM_007126.5

p.P104L

c.311C>T

1 paper

NM_007126.5

p.P104S

c.310C>T

8 papers

NM_007126.5

p.P104A

c.310C>G

1 paper

NM_007126.5

p.G111S

c.331G>A

1 paper

NM_007126.5

p.K112E

c.334A>G

1 paper

NM_007126.5

p.I102S

c.305T>G