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.N90insFs

c.268_269insC

Surrounding Variants

2 papers

NM_007126.5

p.N90D

c.268A>G

1 paper

NM_007126.5

p.N90_N91ins4

c.268_272ins12

1 paper

NM_007126.5

p.R89delFs

c.267delC

1 paper

NM_007126.5

p.R89R

c.267G>C

1 paper

NM_007126.5

p.R89_N90delFs

c.267_268delTC

10 papers

NM_007126.5

p.R89Q

c.266G>A

1 paper

NM_007126.5

p.R89delFs

c.265delG

1 paper

NM_007126.5

p.R89fs

c.265_266fs

3 papers

NM_007126.5

p.R89W

c.265C>T

2 papers

NM_007126.5

p.R89G

c.265C>G

16 papers

NM_007126.5

p.N91Y

c.271A>T

1 paper

NM_007126.5

p.N91T

c.272A>C