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.T78_I79insFs

c.234_235insAA

Surrounding Variants

1 paper

NM_025179.4

p.Q80*

c.238C>T

1 paper

NM_025179.4

p.V81L

c.241G>T

1 paper

NM_025179.4

p.V81L

c.241G>C

2 papers

NM_025179.4

p.V81M

c.241G>A

1 paper

NM_025179.4

p.G75S

c.223G>A

1 paper

NM_025179.4

p.L73L

c.219G>A

1 paper

NM_025179.4

p.L73Q

c.218T>A

1 paper

NM_025179.4

p.G86R

c.256G>A

1 paper

NM_025179.4

p.R69W

c.205C>T

1 paper

NM_025179.4

p.N68D

c.202A>G

1 paper

NM_025179.4

p.A66V

c.197C>T

2 papers

NM_025179.4

p.A66T

c.196G>A