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.S404G

c.1210A>G

Surrounding Variants

1 paper

NM_001024383.2

p.P403L

c.1208C>T

2 papers

NM_001024383.2

p.G406V

c.1217G>T

1 paper

NM_001024383.2

p.R398fs

c.1192_1193fs

1 paper

NM_001024383.2

p.R398C

c.1192C>T

1 paper

NM_001024383.2

p.A396V

c.1187C>T

1 paper

NM_001024383.2

p.T395S

c.1184C>G

1 paper

NM_001024383.2

p.T395S

c.1183A>T

1 paper

NM_001024383.2

p.R394Q

c.1181G>A

1 paper

NM_001024383.2

p.D414G

c.1241A>G

1 paper

NM_001024383.2

p.D414V

c.1241A>T

1 paper

NM_001024383.2

p.A393T

c.1177G>A

1 paper

NM_001024383.2

p.L390I

c.1168C>A