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

2 papers

NM_001024383.2

p.W332*

c.995G>A

Surrounding Variants

2 papers

NM_001024383.2

p.W332*

c.996G>A

1 paper

NM_001024383.2

p.K335R

c.1004A>G

1 paper

NM_001024383.2

p.S336S

c.1008C>G

1 paper

NM_001024383.2

p.A343T

c.1027G>A

1 paper

NM_001024383.2

p.T344I

c.1031C>T

1 paper

NM_001024383.2

p.A320P

c.958G>C

1 paper

NM_001024383.2

p.S345delFs

c.1034delC

1 paper

NM_001024383.2

p.M347L

c.1039A>C

1 paper

NM_001024383.2

p.M347L

c.1039A>T

1 paper

NM_001024383.2

p.L348F

c.1044G>C

1 paper

NM_001024383.2

p.L348F

c.1044G>T

1 paper

NM_001024383.2

p.T314N

c.941C>A