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.M84L

c.250A>T

Surrounding Variants

1 paper

NM_007126.5

p.N85ins6

c.253_254ins18

1 paper

NM_007126.5

p.M84delFs

c.252delC

1 paper

NM_007126.5

p.I82V

c.244A>G

5 papers

NM_007126.5

p.V87F

c.259G>T

1 paper

NM_007126.5

p.V87I

c.259G>A

1 paper

NM_007126.5

p.V88F

c.262G>T

1 paper

NM_007126.5

p.V88I

c.262G>A

1 paper

NM_007126.5

p.D79E

c.237T>G

1 paper

NM_007126.5

p.D79E

c.237T>A

1 paper

NM_007126.5

p.D79N

c.235G>A

1 paper

NM_007126.5

p.R89fs

c.265_266fs

3 papers

NM_007126.5

p.R89W

c.265C>T