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.P636S

c.1906C>T

Surrounding Variants

2 papers

NM_007126.5

p.P636L

c.1907C>T

1 paper

NM_007126.5

p.P636H

c.1907C>A

1 paper

NM_007126.5

p.R635K

c.1904G>A

2 papers

NM_007126.5

p.L639F

c.1915C>T

1 paper

NM_007126.5

p.L642F

c.1924C>T

2 papers

NM_007126.5

p.R625R

c.1875G>T

1 paper

NM_007126.5

p.R625P

c.1874G>C

1 paper

NM_007126.5

p.D649A

c.1946A>C

1 paper

NM_007126.5

p.K651E

c.1951A>G

1 paper

NM_007126.5

p.S652A

c.1954T>G

1 paper

NM_007126.5

p.R653S

c.1957C>A

1 paper

NM_007126.5

p.R653_V654insFs

c.1959_1960insGT