Varaico: Literature-Extracted Genetic Variants

PLXNA2

595 papers

RefSeq Summary

This gene encodes a member of the plexin-A family of semaphorin co-receptors. Semaphorins are a large family of secreted or membrane-bound proteins that mediate repulsive effects on axon pathfinding d...

Pfam Domains

Semaaa 310–489UCSCSema domain

PSIaa 510–560UCSCPlexin repeat

TIG_plexinaa 565–654UCSCTIG domain

PSIaa 655–702UCSCPlexin repeat

TIG_2aa 708–802UCSCTIG domain found in plexin

PSIaa 803–856UCSCPlexin repeat

Gene Aliases

HGNC Name

plexin A2

HGNC Previous Symbol

PLXN2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_025179.4

p.D408N

c.1222G>A

Surrounding Variants

1 paper

NM_025179.4

p.C405insFs

c.1214_1215insT

5 papers

NM_025179.4

p.P412P

c.1236C>T

1 paper

NM_025179.4

p.L413L

c.1237C>T

1 paper

NM_025179.4

p.L413L

c.1239G>A

1 paper

NM_025179.4

p.G414A

c.1241G>C

1 paper

NM_025179.4

p.G414E

c.1241G>A

2 papers

NM_025179.4

p.D401N

c.1201G>A

1 paper

NM_025179.4

p.E420_G421del1

c.1260_1262delCCC

1 paper

NM_025179.4

p.R431C

c.1291C>T

2 papers

NM_025179.4

p.M432V

c.1294A>G

1 paper

NM_025179.4

p.V435M

c.1303G>A

1 paper

NM_025179.4

p.A436V

c.1307C>T