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

68 papers

NM_007126.5

p.E578Q

c.1732G>C

Surrounding Variants

1 paper

NM_007126.5

p.D577E

c.1731T>G

1 paper

NM_007126.5

p.D577E

c.1731T>A

1 paper

NM_007126.5

p.L579V

c.1735C>G

1 paper

NM_007126.5

p.L579P

c.1736T>C

4 papers

NM_007126.5

p.Q568Q

c.1704A>G

3 papers

NM_007126.5

p.R567H

c.1700G>A

3 papers

NM_007126.5

p.K565_A566Splc

c.1696-3C>T

2 papers

NM_007126.5

p.D592H

c.1774G>C

33 papers

NM_007126.5

p.D592N

c.1774G>A

1 paper

NM_007126.5

p.D592A

c.1775A>C

1 paper

NM_007126.5

p.A596A

c.1788T>G

4 papers

NM_007126.5

p.Q603*

c.1807C>T