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.I1004M

c.3012C>G

Surrounding Variants

1 paper

NM_025179.4

p.V1007I

c.3019G>A

1 paper

NM_025179.4

p.G998Splc

c.2994-5G>C

2 papers

NM_025179.4

p.S1012insFs

c.3034dupT

1 paper

NM_025179.4

p.N1013S

c.3038A>G

1 paper

NM_025179.4

p.L1015L

c.3045T>G

3 papers

NM_025179.4

p.D1025N

c.3073G>A

1 paper

NM_025179.4

p.D1030A

c.3089A>C

1 paper

NM_025179.4

p.S1031S

c.3093C>T

1 paper

NM_025179.4

p.E1036Q

c.3106G>C

1 paper

NM_025179.4

p.I1052delFs

c.3155delA

1 paper

NM_025179.4

p.R1075*

c.3223C>T

1 paper

NM_025179.4

p.R1075G

c.3223C>G