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.E132A

c.395A>C

Surrounding Variants

1 paper

NM_007126.5

p.L130H

c.389T>A

1 paper

NM_007126.5

p.Y134C

c.401A>G

1 paper

NM_007126.5

p.N129S

c.386A>G

1 paper

NM_007126.5

p.N129D

c.385A>G

2 papers

NM_007126.5

p.G128V

c.383G>T

14 papers

NM_007126.5

p.G128A

c.383G>C

1 paper

NM_007126.5

p.K136T

c.407A>C

3 papers

NM_007126.5

p.G128C

c.382G>T

3 papers

NM_007126.5

p.P137S

c.409C>T

40 papers

NM_007126.5

p.P137L

c.410C>T

1 paper

NM_007126.5

p.P137Q

c.410C>A

14 papers

NM_007126.5

p.T127A

c.379A>G