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.G9G

c.27T>A

Surrounding Variants

1 paper

NM_007126.5

p.G9V

c.26G>T

1 paper

NM_007126.5

p.G9D

c.26G>A

3 papers

NM_007126.5

p.D10A

c.29A>C

1 paper

NM_007126.5

p.D11Y

c.31G>T

1 paper

NM_007126.5

p.K8R

c.23A>G

1 paper

NM_007126.5

p.D11V

c.32A>T

1 paper

NM_007126.5

p.D11E

c.33C>A

1 paper

NM_007126.5

p.S7L

c.20C>T

1 paper

NM_007126.5

p.D6insFs

c.18dupT

1 paper

NM_007126.5

p.L12I

c.34C>A

1 paper

NM_007126.5

p.D6E

c.18T>A

2 papers

NM_007126.5

p.D6V

c.17A>T