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.I27L

c.79A>C

Surrounding Variants

36 papers

NM_007126.5

p.I27V

c.79A>G

2 papers

NM_007126.5

p.I27T

c.80T>C

1 paper

NM_007126.5

p.I27M

c.81T>G

1 paper

NM_007126.5

p.R25R

c.75G>A

1 paper

NM_007126.5

p.E30K

c.88G>A

1 paper

NM_007126.5

p.P23P

c.69C>A

1 paper

NM_007126.5

p.P23L

c.68C>T

4 papers

NM_007126.5

p.P23H

c.68C>A

1 paper

NM_007126.5

p.E30_A31insFs

c.90_91ins4

1 paper

NM_007126.5

p.A31T

c.91G>A

1 paper

NM_007126.5

p.P23S

c.67C>T

1 paper

NM_007126.5

p.P23A

c.67C>G