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.G30C

c.88G>T

Surrounding Variants

1 paper

NM_001024383.2

p.V20M

c.58G>A

1 paper

NM_001024383.2

p.K18K

c.54G>A

2 papers

NM_001024383.2

p.V15V

c.45T>A

3 papers

NM_001024383.2

p.T45A

c.133A>G

1 paper

NM_001024383.2

p.A14S

c.40G>T

1 paper

NM_001024383.2

p.Q12L

c.35A>T

1 paper

NM_001024383.2

p.L10L

c.30G>C

1 paper

NM_001024383.2

p.L10L

c.28C>T

1 paper

NM_001024383.2

p.V3Fs

c.9delinsACGFs

2 papers

NM_001024383.2

p.A57V

c.170C>T

1 paper

NM_001024383.2

p.E63Q

c.187G>C

1 paper

NM_001024383.2

p.G65E

c.194G>A