Varaico: Literature-Extracted Genetic Variants

NAV1

58 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

Ubiquitin_6aa 1703–1807UCSCNeuron navigator 1-like, ubiquitin-like domain

AAA_lid_NAV1aa 1986–2100UCSCNAV1-like, AAA+ ATPase lid domain

Gene Aliases

HGNC Name

neuron navigator 1

HGNC Alias Symbols

FLJ12560; FLJ14203; KIAA1151; MGC14961; POMFIL3; steerin-1; DKFZp781D0314

Papers

RefSeq ID

Protein change

DNA change

1–12 of 70 variants

2 papers

NM_001389617.1

p.K320K

c.960G>A

2 papers

NM_001389617.1

p.P879L

c.2636C>T

2 papers

NM_001389617.1

p.A1133T

c.3397G>A

1 paper

NM_001389617.1

p.A5P

c.13G>C

1 paper

NM_001389617.1

p.S17F

c.50C>T

1 paper

NM_001389617.1

p.P20S

c.58C>T

1 paper

NM_001389617.1

p.A24T

c.70G>A

1 paper

NM_001389617.1

p.I30F

c.88A>T

1 paper

NM_001389617.1

p.P50ins1

c.149_150insCGG

1 paper

NM_001389617.1

p.A84V

c.251C>T

1 paper

NM_001389617.1

p.D91A

c.272A>C

1 paper

NM_001389617.1

p.R104_T106Fs

c.312_317delinsAGFs