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.Y1460Y

c.4380C>T

Surrounding Variants

1 paper

NM_012401.4

p.A1461T

c.4381G>A

1 paper

NM_012401.4

p.Y1460H

c.4378T>C

1 paper

NM_012401.4

p.N1449K

c.4347C>G

1 paper

NM_012401.4

p.N1449K

c.4347C>A

1 paper

NM_012401.4

p.V1440A

c.4319T>C

1 paper

NM_012401.4

p.Q1431E

c.4291C>G

1 paper

NM_012401.4

p.S1416insFs

c.4248dupT

2 papers

NM_012401.4

p.R1392G

c.4174A>G

2 papers

NM_012401.4

p.E1472K

c.4414G>A

1 paper

NM_012401.4

p.P1478L

c.4433C>T

1 paper

NM_012401.4

p.E1492E

c.4476G>A

1 paper

NM_012401.4

p.S1505S

c.4515C>T