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

110 papers

NM_007126.5

p.R159H

c.476G>A

Surrounding Variants

1 paper

NM_007126.5

p.R159L

c.476G>T

3 papers

NM_007126.5

p.R159P

c.476G>C

82 papers

NM_007126.5

p.R159C

c.475C>T

29 papers

NM_007126.5

p.R159G

c.475C>G

7 papers

NM_007126.5

p.R159S

c.475C>A

9 papers

NM_007126.5

p.M158I

c.474G>T

9 papers

NM_007126.5

p.M158I

c.474G>C

8 papers

NM_007126.5

p.A160P

c.478G>C

9 papers

NM_007126.5

p.M158I

c.474G>A

2 papers

NM_007126.5

p.A160T

c.478G>A

3 papers

NM_007126.5

p.M158T

c.473T>C

20 papers

NM_007126.5

p.M158V

c.472A>G