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

11 papers

NM_007126.5

p.D395A

c.1184A>C

Surrounding Variants

32 papers

NM_007126.5

p.D395G

c.1184A>G

1 paper

NM_007126.5

p.D395E

c.1185C>G

1 paper

NM_007126.5

p.D395E

c.1185C>A

1 paper

NM_007126.5

p.V394M

c.1180G>A

1 paper

NM_007126.5

p.Q382_D392del0

c.1146_1175del30

8 papers

NM_007126.5

p.Q398*

c.1192C>T

1 paper

NM_007126.5

p.Q398_V399Splc

c.1194+3G>A

1 paper

NM_007126.5

p.M388V

c.1162A>G

11 papers

NM_007126.5

p.N387S

c.1160A>G

14 papers

NM_007126.5

p.N387T

c.1160A>C

47 papers

NM_007126.5

p.N387H

c.1159A>C

10 papers

NM_007126.5

p.K386E

c.1156A>G