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.R282W

c.844C>T

Surrounding Variants

1 paper

NM_025179.4

p.V281A

c.842T>C

1 paper

NM_025179.4

p.V281M

c.841G>A

4 papers

NM_025179.4

p.P288H

c.863C>A

1 paper

NM_025179.4

p.L274H

c.821T>A

1 paper

NM_025179.4

p.K289K

c.867G>A

1 paper

NM_025179.4

p.H291Y

c.871C>T

1 paper

NM_025179.4

p.S292T

c.874T>A

2 papers

NM_025179.4

p.A271T

c.811G>A

1 paper

NM_025179.4

p.S270A

c.808T>G

1 paper

NM_025179.4

p.N269D

c.805A>G

7 papers

NM_025179.4

p.A267T

c.799G>A

1 paper

NM_025179.4

p.P297S

c.889C>T