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.V755Splc

c.2264-5C>T

Surrounding Variants

5 papers

NM_012401.4

p.N759D

c.2275A>G

2 papers

NM_012401.4

p.A773T

c.2317G>A

1 paper

NM_012401.4

p.C788Y

c.2363G>A

1 paper

NM_012401.4

p.P801L

c.2402C>T

2 papers

NM_012401.4

p.D750N

c.2248G>A

1 paper

NM_012401.4

p.I749I

c.2247C>T

1 paper

NM_012401.4

p.I805F

c.2413A>T

1 paper

NM_012401.4

p.G746V

c.2237G>T

1 paper

NM_012401.4

p.G746C

c.2236G>T

1 paper

NM_012401.4

p.D731N

c.2191G>A

1 paper

NM_012401.4

p.K727_L728Splc

c.2182-12C>T

1 paper

NM_012401.4

p.R807_I808Splc

c.2422-1G>C