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

2 papers

NM_007126.5

p.L96V

c.286C>G

Surrounding Variants

2 papers

NM_007126.5

p.L96P

c.287T>C

16 papers

NM_007126.5

p.R95H

c.284G>A

43 papers

NM_007126.5

p.R95C

c.283C>T

88 papers

NM_007126.5

p.R95G

c.283C>G

43 papers

NM_007126.5

p.G97E

c.290G>A

1 paper

NM_007126.5

p.G97G

c.291G>A

1 paper

NM_007126.5

p.D98H

c.292G>C

1 paper

NM_007126.5

p.V94I

c.280G>A

7 papers

NM_007126.5

p.D98V

c.293A>T

2 papers

NM_007126.5

p.D98E

c.294T>G

2 papers

NM_007126.5

p.D98E

c.294T>A

1 paper

NM_007126.5

p.R93L

c.278G>T