Varaico: Literature-Extracted Genetic Variants

NAV3

218 papers

RefSeq Summary

This gene belongs to the neuron navigator family and is expressed predominantly in the nervous system. The encoded protein contains coiled-coil domains and a conserved AAA domain characteristic for AT...

Pfam Domains

CHaa 77–185UCSCCalponin homology (CH) domain

Ubiquitin_6aa 1911–2018UCSCNeuron navigator 1-like, ubiquitin-like domain

AAAaa 2052–2165UCSCATPase family associated with various cellular activities (AAA)

AAA_lid_NAV1aa 2197–2311UCSCNAV1-like, AAA+ ATPase lid domain

Gene Aliases

HGNC Name

neuron navigator 3

HGNC Alias Symbols

KIAA0938; POMFIL1

Papers

RefSeq ID

Protein change

DNA change

1–12 of 384 variants

4 papers

NM_001024383.2

p.P1741L

c.5222C>T

3 papers

NM_001024383.2

p.T45A

c.133A>G

3 papers

NM_001024383.2

p.R1433W

c.4297C>T

3 papers

NM_001024383.2

p.R1663H

c.4988G>A

2 papers

NM_001024383.2

p.V15V

c.45T>A

2 papers

NM_001024383.2

p.A57V

c.170C>T

2 papers

NM_001024383.2

p.G158D

c.473G>A

2 papers

NM_001024383.2

p.S207F

c.620C>T

2 papers

NM_001024383.2

p.S313C

c.937A>T

2 papers

NM_001024383.2

p.W332*

c.995G>A

2 papers

NM_001024383.2

p.W332*

c.996G>A

2 papers

NM_001024383.2

p.D364N

c.1090G>A