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

1–12 of 641 variants

306 papers

NM_007126.5

p.R155H

c.464G>A

175 papers

NM_007126.5

p.R155C

c.463C>T

159 papers

NM_007126.5

p.R191Q

c.572G>A

154 papers

NM_007126.5

p.A232E

c.695C>A

110 papers

NM_007126.5

p.R159H

c.476G>A

93 papers

NM_007126.5

p.R93C

c.277C>T

88 papers

NM_007126.5

p.R95G

c.283C>G

82 papers

NM_007126.5

p.R159C

c.475C>T

70 papers

NM_007126.5

p.L198W

c.593T>G

68 papers

NM_007126.5

p.E578Q

c.1732G>C

65 papers

NM_007126.5

p.R155P

c.464G>C

48 papers

NM_007126.5

p.T262A

c.784A>G