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.K1423T

c.4268A>C

Surrounding Variants

3 papers

NM_001024383.2

p.R1433W

c.4297C>T

1 paper

NM_001024383.2

p.R1433Q

c.4298G>A

1 paper

NM_001024383.2

p.R1433L

c.4298G>T

1 paper

NM_001024383.2

p.Q1437E

c.4309C>G

1 paper

NM_001024383.2

p.R1445H

c.4334G>A

1 paper

NM_001024383.2

p.N1479Y

c.4435A>T

1 paper

NM_001024383.2

p.S1413I

c.4238G>T

2 papers

NM_001024383.2

p.S1405I

c.4214G>T

1 paper

NM_001024383.2

p.E1395K

c.4183G>A

1 paper

NM_001024383.2

p.G1392D

c.4175G>A

1 paper

NM_001024383.2

p.L1380V

c.4138C>G

1 paper

NM_001024383.2

p.L1380F

c.4138C>T