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.D234V

c.701A>T

Surrounding Variants

1 paper

NM_002533.4

p.E233Q

c.697G>C

1 paper

NM_002533.4

p.R219W

c.655C>T

1 paper

NM_002533.4

p.S210T

c.628T>A

2 papers

NM_002533.4

p.M272K

c.815T>A

1 paper

NM_002533.4

p.V277I

c.829G>A

2 papers

NM_002533.4

p.H292insFs

c.874_875insG

1 paper

NM_002533.4

p.L302F

c.904C>T

2 papers

NM_002533.4

p.K311M

c.932A>T

1 paper

NM_002533.4

p.G320V

c.959G>T

1 paper

NM_002533.4

p.E203K

c.607G>A

1 paper

NM_002533.4

p.T164T

c.492C>A

1 paper

NM_002533.4

p.R152R

c.456G>A