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.E481_K482ins16

c.1443_1444ins48

Surrounding Variants

1 paper

NM_001024383.2

p.D489N

c.1465G>A

1 paper

NM_001024383.2

p.K471N

c.1413G>C

1 paper

NM_001024383.2

p.K471N

c.1413G>T

1 paper

NM_001024383.2

p.E469*

c.1405G>T

1 paper

NM_001024383.2

p.K498N

c.1494G>C

1 paper

NM_001024383.2

p.K498N

c.1494G>T

1 paper

NM_001024383.2

p.S500F

c.1499C>T

1 paper

NM_001024383.2

p.A503P

c.1507G>C

2 papers

NM_001024383.2

p.L505W

c.1514T>G

1 paper

NM_001024383.2

p.I506V

c.1516A>G

1 paper

NM_001024383.2

p.I506_P507delins

c.1518_1519delinsAA

1 paper

NM_001024383.2

p.P507T

c.1519C>A