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.A234_L235insAA

c.700_704ins6

Surrounding Variants

2 papers

NM_025179.4

p.L233L

c.699G>A

1 paper

NM_025179.4

p.S237Y

c.710C>A

1 paper

NM_025179.4

p.F242S

c.725T>C

1 paper

NM_025179.4

p.L225fs

c.673_674fs

1 paper

NM_025179.4

p.D220insFs

c.658_659insG

2 papers

NM_025179.4

p.G250E

c.749G>A

1 paper

NM_025179.4

p.G251S

c.751G>A

1 paper

NM_025179.4

p.E216K

c.646G>A

1 paper

NM_025179.4

p.V253_L256delFs

c.758_767del10

1 paper

NM_025179.4

p.R205_P207delFs

c.613_619del7

1 paper

NM_025179.4

p.P207R

c.620C>G

5 papers

NM_025179.4

p.R205Q

c.614G>A