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.K315R

c.944A>G

Surrounding Variants

1 paper

NM_007126.5

p.K312R

c.935A>G

1 paper

NM_007126.5

p.K312E

c.934A>G

1 paper

NM_007126.5

p.A310V

c.929C>T

2 papers

NM_007126.5

p.D307E

c.921T>G

2 papers

NM_007126.5

p.D307E

c.921T>A

1 paper

NM_007126.5

p.D307H

c.919G>C

1 paper

NM_007126.5

p.D307N

c.919G>A

1 paper

NM_007126.5

p.L306P

c.917T>C

3 papers

NM_007126.5

p.E305A

c.914A>C

39 papers

NM_007126.5

p.E305Q

c.913G>C

2 papers

NM_007126.5

p.D304N

c.910G>A

1 paper

NM_007126.5

p.I301del1

c.901_902delGAT