Varaico: Literature-Extracted Genetic Variants

NVL

76 papers

RefSeq Summary

This gene encodes a member of the AAA (ATPases associated with diverse cellular activities) superfamily. Multiple transcript variants encoding different isoforms have been found for this gene. Two enc...

Pfam Domains

Nucleolin_bdaa 2–72UCSCNucleolin binding domain

AAAaa 301–434UCSCATPase family associated with various cellular activities (AAA)

AAA_lid_3aa 456–500UCSCAAA+ lid domain

Gene Aliases

HGNC Name

nuclear VCP like

HGNC Alias Symbol

NVL2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002533.4

p.A697T

c.2089G>A

Surrounding Variants

1 paper

NM_002533.4

p.D728Y

c.2182G>T

1 paper

NM_002533.4

p.V683M

c.2047G>A

4 papers

NM_002533.4

p.E682Q

c.2044G>C

1 paper

NM_002533.4

p.K671E

c.2011A>G

1 paper

NM_002533.4

p.R661fs

c.1981_1982fs

1 paper

NM_002533.4

p.R661insFs

c.1981_1982insT