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

3 papers

NM_002533.4

p.F556L

c.1668C>G

Surrounding Variants

3 papers

NM_002533.4

p.F556L

c.1668C>A

3 papers

NM_002533.4

p.F556L

c.1666T>C

1 paper

NM_002533.4

p.D555E

c.1665T>G

1 paper

NM_002533.4

p.D555E

c.1665T>A

1 paper

NM_002533.4

p.Q545H

c.1635G>T

1 paper

NM_002533.4

p.Q545H

c.1635G>C

1 paper

NM_002533.4

p.Q525_D526Splc

c.1575+1G>A

1 paper

NM_002533.4

p.T518A

c.1552A>G

2 papers

NM_002533.4

p.L474R

c.1421T>G

1 paper

NM_002533.4

p.L474F

c.1420C>T

1 paper

NM_002533.4

p.R602H

c.1805G>A

1 paper

NM_001243146.2

p.Q266*

c.796C>T