Varaico: Literature-Extracted Genetic Variants

NAV2

121 papers

RefSeq Summary

This gene encodes a member of the neuron navigator gene family, which may play a role in cellular growth and migration. Multiple transcript variants encoding different isoforms have been found for thi...

Pfam Domains

CHaa 87–193UCSCCalponin homology (CH) domain

Ubiquitin_6aa 2012–2119UCSCNeuron navigator 1-like, ubiquitin-like domain

AAA_lid_NAV1aa 2298–2411UCSCNAV1-like, AAA+ ATPase lid domain

Gene Aliases

HGNC Name

neuron navigator 2

HGNC Alias Symbols

FLJ10633; FLJ11030; HELAD1; KIAA1419; POMFIL2; RAINB1; FLJ23707

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_145117.5

p.E46*

c.136G>T

Surrounding Variants

1 paper

NM_145117.5

p.S43delFs

c.127_128delAG

3 papers

NM_145117.5

p.Y52C

c.155A>G

1 paper

NM_145117.5

p.P57R

c.170C>G

1 paper

NM_145117.5

p.Q61K

c.181C>A

2 papers

NM_145117.5

p.Q64delFs

c.191_192delAG

2 papers

NM_145117.5

p.E72insFs

c.214dupG

1 paper

NM_145117.5

p.E72fs

c.214_215fs

1 paper

NM_145117.5

p.H19Y

c.55C>T

1 paper

NM_145117.5

p.K16E

c.46A>G

1 paper

NM_145117.5

p.R77Q

c.230G>A