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

11 papers

NM_025179.4

p.K1081K

c.3243A>G

Surrounding Variants

1 paper

NM_025179.4

p.R1075*

c.3223C>T

1 paper

NM_025179.4

p.R1075G

c.3223C>G

1 paper

NM_025179.4

p.I1052delFs

c.3155delA

1 paper

NM_025179.4

p.E1036Q

c.3106G>C

1 paper

NM_025179.4

p.S1031S

c.3093C>T

1 paper

NM_025179.4

p.D1030A

c.3089A>C

3 papers

NM_025179.4

p.D1025N

c.3073G>A

1 paper

NM_025179.4

p.L1015L

c.3045T>G

1 paper

NM_025179.4

p.N1013S

c.3038A>G

2 papers

NM_025179.4

p.S1012insFs

c.3034dupT

1 paper

NM_025179.4

p.V1007I

c.3019G>A

1 paper

NM_025179.4

p.I1004M

c.3012C>G