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

4 papers

NM_007126.5

p.K251T

c.752A>C

Surrounding Variants

1 paper

NM_007126.5

p.K251M

c.752A>T

1 paper

NM_007126.5

p.K251R

c.752A>G

1 paper

NM_007126.5

p.K251N

c.753G>T

1 paper

NM_007126.5

p.K251N

c.753G>C

3 papers

NM_007126.5

p.K251Q

c.751A>C

1 paper

NM_007126.5

p.T252A

c.754A>G

5 papers

NM_007126.5

p.I254F

c.760A>T

1 paper

NM_007126.5

p.I254N

c.761T>A

1 paper

NM_007126.5

p.G248R

c.742G>C

1 paper

NM_007126.5

p.G248R

c.742G>A

1 paper

NM_007126.5

p.A255insFs

c.764dupC

2 papers

NM_007126.5

p.P247A

c.739C>G