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.S78F

c.233C>T

Surrounding Variants

1 paper

NM_007126.5

p.D79N

c.235G>A

4 papers

NM_007126.5

p.C77S

c.230G>C

1 paper

NM_007126.5

p.C77Y

c.230G>A

1 paper

NM_007126.5

p.D79E

c.237T>G

1 paper

NM_007126.5

p.D79E

c.237T>A

3 papers

NM_007126.5

p.T76A

c.226A>G

1 paper

NM_007126.5

p.I82V

c.244A>G

4 papers

NM_007126.5

p.D74V

c.221A>T

1 paper

NM_007126.5

p.D74ins2

c.220_221ins6

1 paper

NM_007126.5

p.D74ins4

c.220_221ins12

1 paper

NM_007126.5

p.D74ins6

c.220_221ins18

1 paper

NM_007126.5

p.M84L

c.250A>T