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.K1759Q

c.5275A>C

Surrounding Variants

1 paper

NM_001024383.2

p.A1764V

c.5291C>T

1 paper

NM_001024383.2

p.N1749D

c.5245A>G

4 papers

NM_001024383.2

p.P1741L

c.5222C>T

1 paper

NM_001024383.2

p.S1728*

c.5183C>A

1 paper

NM_001024383.2

p.S1728*

c.5183C>G

1 paper

NM_001024383.2

p.P1773Q

c.5318C>A

1 paper

NM_001024383.2

p.R1776*

c.5326C>T

2 papers

NM_001024383.2

p.R1788Q

c.5363G>A

1 paper

NM_001024383.2

p.R1788L

c.5363G>T

1 paper

NM_001024383.2

p.S1704P

c.5110T>C

1 paper

NM_001024383.2

p.W1701_V1702Splc

c.5104-31G>T

1 paper

NM_001024383.2

p.K1699del1

c.5095_5096delAAA