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.T56A

c.166A>G

Surrounding Variants

3 papers

NM_007126.5

p.D55A

c.164A>C

1 paper

NM_007126.5

p.V57E

c.170T>A

1 paper

NM_007126.5

p.G54delFs

c.161delC

1 paper

NM_007126.5

p.V57insFs

c.171dupG

1 paper

NM_007126.5

p.L58M

c.172T>A

1 paper

NM_007126.5

p.G54fs

c.160_161fs

1 paper

NM_007126.5

p.G54C

c.160G>T

1 paper

NM_007126.5

p.L58fs

c.172_173fs

1 paper

NM_007126.5

p.L59insFs

c.175_176insGG

1 paper

NM_007126.5

p.F52C

c.155T>G

1 paper

NM_007126.5

p.K60E

c.178A>G

2 papers

NM_007126.5

p.L51F

c.153G>T