Varaico: Literature-Extracted Genetic Variants

PLXNB2

269 papers

RefSeq Summary

Members of the B class of plexins, such as PLXNB2 are transmembrane receptors that participate in axon guidance and cell migration in response to semaphorins (Perrot et al. (2002) [PubMed 12183458]).[...

Pfam Domains

Semaaa 279–447UCSCSema domain

PSIaa 468–519UCSCPlexin repeat

TIG_plexinaa 525–613UCSCTIG domain

PSI_PlexinA-Baa 627–652UCSCPlexin A/B, PSI domain

PSIaa 759–806UCSCPlexin repeat

TIGaa 803–892UCSCIPT/TIG domain

Gene Aliases

HGNC Name

plexin B2

HGNC Alias Symbols

MM1; KIAA0315; PLEXB2; lncFAL

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_012401.4

p.K417_V418Splc

c.1252-8G>A

Surrounding Variants

1 paper

NM_012401.4

p.L446M

c.1336C>A

1 paper

NM_012401.4

p.D412G

c.1235A>G

1 paper

NM_012401.4

p.F407delFs

c.1221delA

1 paper

NM_012401.4

p.F407fs

c.1219_1220fs

1 paper

NM_012401.4

p.A399T

c.1195G>A

1 paper

NM_012401.4

p.V395L

c.1183G>T

1 paper

NM_012401.4

p.V395L

c.1183G>C

1 paper

NM_012401.4

p.L390ins2

c.1168_1169ins6

1 paper

NM_012401.4

p.V384M

c.1150G>A

1 paper

NM_012401.4

p.L379F

c.1135C>T

1 paper

NM_012401.4

p.R376C

c.1126C>T

1 paper

NM_012401.4

p.L369_Y371delFs

c.1107_1111del5