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.K619*

c.1855A>T

Surrounding Variants

1 paper

NM_025179.4

p.C613_K619del7

c.1837_1856del21

3 papers

NM_025179.4

p.V623I

c.1867G>A

1 paper

NM_025179.4

p.I614T

c.1841T>C

1 paper

NM_025179.4

p.S607S

c.1821C>T

1 paper

NM_025179.4

p.A595T

c.1783G>A

1 paper

NM_025179.4

p.A590V

c.1769C>T

1 paper

NM_025179.4

p.S583R

c.1749T>A

1 paper

NM_025179.4

p.D629D

c.1887C>T

1 paper

NM_025179.4

p.Q636*

c.1906C>T

1 paper

NM_025179.4

p.S639S

c.1917C>A

1 paper

NM_025179.4

p.K640N

c.1920G>T

1 paper

NM_025179.4

p.K640N

c.1920G>C