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.T197A

c.589A>G

Surrounding Variants

1 paper

NM_025179.4

p.T197insFs

c.589_590insG

1 paper

NM_025179.4

p.T197insFs

c.590_591insG

1 paper

NM_025179.4

p.P196L

c.587C>T

1 paper

NM_025179.4

p.L198M

c.592C>A

1 paper

NM_025179.4

p.S199insFs

c.595_596insGA

1 paper

NM_025179.4

p.R201W

c.601C>T

1 paper

NM_025179.4

p.K191T

c.572A>C

1 paper

NM_025179.4

p.L203M

c.607C>A

1 paper

NM_025179.4

p.G190E

c.569G>A

1 paper

NM_025179.4

p.D189H

c.565G>C

2 papers

NM_025179.4

p.R205*

c.613C>T

5 papers

NM_025179.4

p.R205Q

c.614G>A