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

2 papers

NM_007126.5

p.I206V

c.616A>G

Surrounding Variants

12 papers

NM_007126.5

p.I206F

c.616A>T

1 paper

NM_007126.5

p.G202_I206delFs

c.604_616del13

1 paper

NM_007126.5

p.G207A

c.620G>C

1 paper

NM_007126.5

p.G208A

c.623G>C

3 papers

NM_007126.5

p.C209G

c.625T>G

1 paper

NM_007126.5

p.C209C

c.627C>T

9 papers

NM_007126.5

p.G202W

c.604G>T

1 paper

NM_007126.5

p.G202R

c.604G>C

1 paper

NM_007126.5

p.G202R

c.604G>A

1 paper

NM_007126.5

p.R210K

c.629G>A

1 paper

NM_007126.5

p.K211*

c.631A>T

1 paper

NM_007126.5

p.K211E

c.631A>G