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

1 paper

NM_025179.4

p.Y158*

c.474C>A

Surrounding Variants

1 paper

NM_025179.4

p.L159L

c.475C>T

4 papers

NM_025179.4

p.S160S

c.480C>G

2 papers

NM_025179.4

p.E156G

c.467A>G

1 paper

NM_025179.4

p.S161insFs

c.482_483ins10

1 paper

NM_025179.4

p.S152_H153del0

c.454_459del6

1 paper

NM_025179.4

p.H153Y

c.457C>T

1 paper

NM_025179.4

p.T165M

c.494C>T

1 paper

NM_025179.4

p.T165T

c.495G>C

1 paper

NM_025179.4

p.Y169H

c.505T>C

1 paper

NM_025179.4

p.Y169insFs

c.506_507insC

1 paper

NM_025179.4

p.G166_Y169del0

c.498_506del9

1 paper

NM_025179.4

p.D144_L145del0

c.430_435del6