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

1–12 of 284 variants

10 papers

NM_012401.4

p.D178N

c.532G>A

6 papers

NM_012401.4

p.K318E

c.952A>G

5 papers

NM_012401.4

p.N759D

c.2275A>G

4 papers

NM_012401.4

p.I823V

c.2467A>G

4 papers

NM_012401.4

p.E1804K

c.5410G>A

3 papers

NM_012401.4

p.R463Q

c.1388G>A

3 papers

NM_012401.4

p.R1538W

c.4612C>T

2 papers

NM_012401.4

p.G12V

c.35G>T

2 papers

NM_012401.4

p.L211V

c.631C>G

2 papers

NM_012401.4

p.R634H

c.1901G>A

2 papers

NM_012401.4

p.D750N

c.2248G>A

2 papers

NM_012401.4

p.A773T

c.2317G>A