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

3 papers

NM_007126.5

p.F267_L268del1

c.801_803delAAG

Surrounding Variants

1 paper

NM_007126.5

p.F267_L268del2

c.799_803del6

1 paper

NM_007126.5

p.L268_I269insC

c.802_806ins3

1 paper

NM_007126.5

p.G271Splc

c.811+1G>A

1 paper

NM_007126.5

p.G271Splc

c.811+2T>C

4 papers

NM_007126.5

p.G271Splc

c.811+3G>A

1 paper

NM_007126.5

p.A264V

c.791C>T

6 papers

NM_007126.5

p.T262S

c.785C>G

6 papers

NM_007126.5

p.T262S

c.784A>T

48 papers

NM_007126.5

p.T262A

c.784A>G

1 paper

NM_007126.5

p.E261K

c.781G>A

1 paper

NM_007126.5

p.R256Q

c.767G>A

1 paper

NM_007126.5

p.R256*

c.766C>T