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.R962Q

c.2885G>A

Surrounding Variants

1 paper

NM_001389617.1

p.E1004*

c.3010G>T

2 papers

NM_001389617.1

p.P879L

c.2636C>T

1 paper

NM_001389617.1

p.N1054N

c.3162C>T

1 paper

NM_001389617.1

p.K847_K857del11

c.2539_2570del33

1 paper

NM_001389617.1

p.T1075I

c.3224C>T

2 papers

NM_001389617.1

p.A1133T

c.3397G>A

1 paper

NM_001389617.1

p.L1147insFs

c.3440_3441insAT

1 paper

NM_001389617.1

p.G1167S

c.3499G>A

1 paper

NM_001389617.1

p.L1168L

c.3504G>A

1 paper

NM_001389617.1

p.T833delFs

c.2499delA

1 paper

NM_001389617.1

p.E764G

c.2291A>G

1 paper

NM_001389617.1

p.R736H

c.2207G>A