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.M536Splc

c.1608-2A>G

Surrounding Variants

6 papers

NM_025179.4

p.C537G

c.1609T>G

2 papers

NM_025179.4

p.C537W

c.1611C>G

1 paper

NM_025179.4

p.P549L

c.1646C>T

1 paper

NM_025179.4

p.N550K

c.1650T>G

1 paper

NM_025179.4

p.N550K

c.1650T>A

1 paper

NM_025179.4

p.N550_F552del3

c.1648_1655del9

1 paper

NM_025179.4

p.S557N

c.1670G>A

1 paper

NM_025179.4

p.C559fs

c.1675_1676fs

1 paper

NM_025179.4

p.S561R

c.1681A>C

1 paper

NM_025179.4

p.S561R

c.1683C>G

1 paper

NM_025179.4

p.S561R

c.1683C>A

1 paper

NM_025179.4

p.S583R

c.1749T>A