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.G589C

c.1765G>T

Surrounding Variants

1 paper

NM_001024383.2

p.Q590K

c.1768C>A

1 paper

NM_001024383.2

p.G585*

c.1753G>T

1 paper

NM_001024383.2

p.E584E

c.1752A>G

1 paper

NM_001024383.2

p.S594F

c.1781C>T

1 paper

NM_001024383.2

p.G595G

c.1785T>G

1 paper

NM_001024383.2

p.T598A

c.1792A>G

1 paper

NM_001024383.2

p.A576A

c.1728T>G

1 paper

NM_001024383.2

p.A576V

c.1727C>T

1 paper

NM_001024383.2

p.K573N

c.1719A>C

1 paper

NM_001024383.2

p.K573N

c.1719A>T

1 paper

NM_001024383.2

p.S605C

c.1813A>T

1 paper

NM_001024383.2

p.E572D

c.1716G>C