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.Q3_W7del5

c.7_20del15

Surrounding Variants

1 paper

NM_025179.4

p.R9W

c.25C>T

1 paper

NM_025179.4

p.W7delins

c.20delinsC

1 paper

NM_025179.4

p.P6P

c.18C>T

1 paper

NM_025179.4

p.L11M

c.31C>A

3 papers

NM_025179.4

p.R5Q

c.14G>A

1 paper

NM_025179.4

p.R5W

c.13C>T

1 paper

NM_025179.4

p.R4S

c.12G>C

1 paper

NM_025179.4

p.E12K

c.34G>A

1 paper

NM_025179.4

p.M1_Q3delFs

c.3_7del5

1 paper

NM_025179.4

p.V13V

c.39G>C

1 paper

NM_025179.4

p.M1Fs

c.3delinsCATTTGGGCTCCTCATTTGGFs

1 paper

NM_025179.4

p.M1I

c.3G>C