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

4 papers

NM_145117.5

p.Q468H

c.1404G>C

Surrounding Variants

4 papers

NM_145117.5

p.Q468H

c.1404G>T

1 paper

NM_145117.5

p.I466V

c.1396A>G

1 paper

NM_145117.5

p.G453C

c.1357G>T

1 paper

NM_145117.5

p.A444fs

c.1330_1331fs

1 paper

NM_145117.5

p.A444delFs

c.1331delC

1 paper

NM_145117.5

p.M532V

c.1594A>G

2 papers

NM_145117.5

p.K404N

c.1212G>C

2 papers

NM_145117.5

p.K535insFs

c.1604dupA

1 paper

NM_145117.5

p.K534E

c.1600A>G

1 paper

NM_145117.5

p.Q398L

c.1193A>T

1 paper

NM_145117.5

p.P393L

c.1178C>T

1 paper

NM_145117.5

p.K545R

c.1634A>G