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

3 papers

NM_145117.5

p.Q196del1

c.586_587delCAG

Surrounding Variants

2 papers

NM_145117.5

p.K191_Q192del2

c.571_575del6

1 paper

NM_145117.5

p.S186N

c.557G>A

1 paper

NM_145117.5

p.Q195H

c.585G>C

1 paper

NM_145117.5

p.Q195H

c.585G>T

1 paper

NM_145117.5

p.Q198*

c.592C>T

1 paper

NM_145117.5

p.V210I

c.628G>A

1 paper

NM_145117.5

p.P239L

c.716C>T

1 paper

NM_145117.5

p.P242L

c.725C>T