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.L280V

c.838C>G

Surrounding Variants

1 paper

NM_012401.4

p.G277R

c.829G>C

1 paper

NM_012401.4

p.C266*

c.798C>A

1 paper

NM_012401.4

p.Y259H

c.775T>C

1 paper

NM_012401.4

p.G306delFs

c.918delC

1 paper

NM_012401.4

p.C250*

c.750C>A

1 paper

NM_012401.4

p.R248H

c.743G>A

1 paper

NM_012401.4

p.R248C

c.742C>T

1 paper

NM_012401.4

p.R243H

c.728G>A

6 papers

NM_012401.4

p.K318E

c.952A>G

1 paper

NM_012401.4

p.Q235E

c.703C>G

1 paper

NM_012401.4

p.C330Y

c.989G>A

1 paper

NM_012401.4

p.F229V

c.685T>G