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.A67G

c.200C>G

Surrounding Variants

2 papers

NM_007126.5

p.E66K

c.196G>A

1 paper

NM_007126.5

p.C69R

c.205T>C

1 paper

NM_007126.5

p.R65*

c.193C>T

1 paper

NM_007126.5

p.R64T

c.191G>C

1 paper

NM_007126.5

p.V71I

c.211G>A

3 papers

NM_007126.5

p.K63R

c.188A>G

1 paper

NM_007126.5

p.K63_R64insC

c.187_191ins3

1 paper

NM_007126.5

p.L72F

c.214C>T

1 paper

NM_007126.5

p.L72I

c.214C>A

2 papers

NM_007126.5

p.L72ins2

c.215_216ins6

1 paper

NM_007126.5

p.L72ins4

c.215_216ins12

1 paper

NM_007126.5

p.L72ins6

c.215_216ins18