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

1–12 of 71 variants

5 papers

NM_002533.4

p.V404I

c.1210G>A

4 papers

NM_002533.4

p.E365Q

c.1093G>C

4 papers

NM_002533.4

p.K628M

c.1883A>T

4 papers

NM_002533.4

p.E682Q

c.2044G>C

3 papers

NM_002533.4

p.F556L

c.1666T>C

3 papers

NM_002533.4

p.F556L

c.1668C>G

3 papers

NM_002533.4

p.F556L

c.1668C>A

2 papers

NM_002533.4

p.M272K

c.815T>A

2 papers

NM_002533.4

p.H292insFs

c.874_875insG

2 papers

NM_002533.4

p.K311M

c.932A>T

2 papers

NM_002533.4

p.E348_L349insFs

c.1044_1045insC

2 papers

NM_002533.4

p.V406delFs

c.1216delC