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

4 papers

NM_007126.5

p.P118L

c.353C>T

Surrounding Variants

1 paper

NM_007126.5

p.P118S

c.352C>T

1 paper

NM_007126.5

p.P118P

c.354C>A

2 papers

NM_007126.5

p.L117L

c.351G>A

2 papers

NM_007126.5

p.L117R

c.350T>G

1 paper

NM_007126.5

p.L117Q

c.350T>A

1 paper

NM_007126.5

p.L117L

c.349C>T

1 paper

NM_007126.5

p.L117V

c.349C>G

13 papers

NM_007126.5

p.V116V

c.348G>C

1 paper

NM_007126.5

p.D120N

c.358G>A

1 paper

NM_007126.5

p.D121N

c.361G>A

1 paper

NM_007126.5

p.D121delFs

c.361delC

1 paper

NM_007126.5

p.I114T

c.341T>C