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.T1371M

c.4112C>T

Surrounding Variants

1 paper

NM_001024383.2

p.S1362R

c.4086C>A

1 paper

NM_001024383.2

p.S1362R

c.4086C>G

1 paper

NM_001024383.2

p.L1380V

c.4138C>G

1 paper

NM_001024383.2

p.L1380F

c.4138C>T

1 paper

NM_001024383.2

p.S1362R

c.4084A>C

1 paper

NM_001024383.2

p.S1352T

c.4055G>C

1 paper

NM_001024383.2

p.G1392D

c.4175G>A

1 paper

NM_001024383.2

p.E1395K

c.4183G>A

1 paper

NM_001024383.2

p.T1340K

c.4019C>A

2 papers

NM_001024383.2

p.S1405I

c.4214G>T

1 paper

NM_001024383.2

p.S1335P

c.4003T>C

1 paper

NM_001024383.2

p.P1333L

c.3998C>T