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.T385A

c.1153A>G

Surrounding Variants

1 paper

NM_007126.5

p.T385P

c.1153A>C

1 paper

NM_007126.5

p.H384Y

c.1150C>T

10 papers

NM_007126.5

p.K386E

c.1156A>G

6 papers

NM_007126.5

p.I383V

c.1147A>G

47 papers

NM_007126.5

p.N387H

c.1159A>C

1 paper

NM_007126.5

p.Q382insFs

c.1145_1146insA

11 papers

NM_007126.5

p.N387S

c.1160A>G

14 papers

NM_007126.5

p.N387T

c.1160A>C

1 paper

NM_007126.5

p.L381del1

c.1141_1142delAAG

1 paper

NM_007126.5

p.M388V

c.1162A>G

1 paper

NM_007126.5

p.Q382_D392del0

c.1146_1175del30

2 papers

NM_007126.5

p.R377H

c.1130G>A