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

Selected Variant

1 paper

NM_001389617.1

p.S481S

c.1443C>T

Surrounding Variants

1 paper

NM_001389617.1

p.E482A

c.1445A>C

1 paper

NM_001389617.1

p.E477Q

c.1429G>C

1 paper

NM_001389617.1

p.E511G

c.1532A>G

1 paper

NM_001389617.1

p.A514P

c.1540G>C

1 paper

NM_020443.5

p.G129S

c.385G>A

1 paper

NM_001389617.1

p.E395del1

c.1183_1184delGAG

1 paper

NM_001389617.1

p.S387Y

c.1160C>A

1 paper

NM_001389617.1

p.S370_R373del4

c.1108_1118del12

1 paper

NM_001389617.1

p.E350K

c.1048G>A

2 papers

NM_001389617.1

p.K320K

c.960G>A

1 paper

NM_001389617.1

p.E309V

c.926A>T

1 paper

NM_001389617.1

p.L302M

c.904C>A