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.S131R

c.393C>A

Surrounding Variants

1 paper

NM_025179.4

p.S131R

c.393C>G

1 paper

NM_025179.4

p.S131C

c.391A>T

1 paper

NM_025179.4

p.S131R

c.391A>C

1 paper

NM_025179.4

p.G135E

c.404G>A

1 paper

NM_025179.4

p.C137S

c.409T>A

1 paper

NM_025179.4

p.L126L

c.376C>T

1 paper

NM_025179.4

p.R125H

c.374G>A

1 paper

NM_025179.4

p.K138K

c.414G>A

1 paper

NM_025179.4

p.L139L

c.417G>C

1 paper

NM_025179.4

p.R141W

c.421C>T

4 papers

NM_025179.4

p.S122Y

c.365C>A

2 papers

NM_025179.4

p.R141R

c.421C>A