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

2 papers

NM_002533.4

p.V406delFs

c.1216delC

Surrounding Variants

1 paper

NM_002533.4

p.V404G

c.1211T>G

5 papers

NM_002533.4

p.V404I

c.1210G>A

2 papers

NM_002533.4

p.A423A

c.1269G>A

1 paper

NM_002533.4

p.D436delFs

c.1307_1308delAT

1 paper

NM_002533.4

p.P371A

c.1111C>G

1 paper

NM_002533.4

p.T370P

c.1108A>C

1 paper

NM_002533.4

p.I369V

c.1105A>G

4 papers

NM_002533.4

p.E365Q

c.1093G>C

1 paper

NM_002533.4

p.C359G

c.1075T>G

2 papers

NM_002533.4

p.C448Y

c.1343G>A

1 paper

NM_001243146.2

p.Q266*

c.796C>T

1 paper

NM_002533.4

p.L474F

c.1420C>T