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

159 papers

NM_007126.5

p.R191Q

c.572G>A

Surrounding Variants

9 papers

NM_007126.5

p.R191P

c.572G>C

18 papers

NM_007126.5

p.R191G

c.571C>G

1 paper

NM_007126.5

p.K190R

c.569A>G

1 paper

NM_007126.5

p.P188L

c.563C>T

3 papers

NM_007126.5

p.P188T

c.562C>A

1 paper

NM_007126.5

p.E187delFs

c.560delT

1 paper

NM_007126.5

p.E187K

c.559G>A

2 papers

NM_007126.5

p.G186G

c.558G>T

1 paper

NM_007126.5

p.G186_E187insFs

c.558_559insC

18 papers

NM_007126.5

p.E185K

c.553G>A

1 paper

NM_007126.5

p.C184W

c.552C>G

1 paper

NM_007126.5

p.H183Y

c.547C>T