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

Selected Variant

1 paper

NM_001024383.2

p.V142G

c.425T>G

Surrounding Variants

1 paper

NM_001024383.2

p.D143N

c.427G>A

2 papers

NM_001024383.2

p.G158D

c.473G>A

1 paper

NM_001024383.2

p.S180F

c.539C>T

1 paper

NM_001024383.2

p.R181S

c.541C>A

1 paper

NM_001024383.2

p.R181C

c.541C>T

1 paper

NM_001024383.2

p.Y193C

c.578A>G

1 paper

NM_001024383.2

p.L199I

c.595C>A

1 paper

NM_001024383.2

p.Q200*

c.598C>T

1 paper

NM_001024383.2

p.R202*

c.604C>T

2 papers

NM_001024383.2

p.S207F

c.620C>T

1 paper

NM_001024383.2

p.S213I

c.638G>T