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.K341N

c.1023A>C

Surrounding Variants

1 paper

NM_025179.4

p.K341N

c.1023A>T

1 paper

NM_025179.4

p.K344K

c.1032G>A

1 paper

NM_025179.4

p.P350S

c.1048C>T

1 paper

NM_025179.4

p.D332E

c.996C>G

1 paper

NM_025179.4

p.D332E

c.996C>A

1 paper

NM_025179.4

p.D352H

c.1054G>C

1 paper

NM_025179.4

p.Q331P

c.992A>C

1 paper

NM_025179.4

p.F326S

c.977T>C

1 paper

NM_025179.4

p.A325V

c.974C>T

1 paper

NM_025179.4

p.A325T

c.973G>A

1 paper

NM_025179.4

p.D320delFs

c.960delG

1 paper

NM_025179.4

p.K317_P318insFs

c.951_954dup4