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

307 papers

NM_007126.5

p.R155H

c.464G>A

NM_001354928.2

p.R110H

c.329G>A

Surrounding Variants

21 papers

NM_007126.5

p.R155L

c.464G>T

65 papers

NM_007126.5

p.R155P

c.464G>C

176 papers

NM_007126.5

p.R155C

c.463C>T

NM_001354927.2

p.R110C

c.328C>T

10 papers

NM_007126.5

p.R155G

c.463C>G

27 papers

NM_007126.5

p.R155S

c.463C>A

13 papers

NM_007126.5

p.G156C

c.466G>T

2 papers

NM_007126.5

p.G156R

c.466G>C

13 papers

NM_007126.5

p.G156S

c.466G>A

1 paper

NM_007126.5

p.G156V

c.467G>T

5 papers

NM_007126.5

p.V154F

c.460G>T

42 papers

NM_007126.5

p.G157R

c.469G>C

42 papers

NM_007126.5

p.G157R

c.469G>A