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.Q1226E

c.3676C>G

Surrounding Variants

1 paper

NM_012401.4

p.A1227fs

c.3679_3680fs

1 paper

NM_012401.4

p.A1227insFs

c.3679dupG

1 paper

NM_012401.4

p.R1246Q

c.3737G>A

2 papers

NM_012401.4

p.R1248C

c.3742C>T

1 paper

NM_012401.4

p.K1251R

c.3752A>G

1 paper

NM_012401.4

p.E1252D

c.3756A>T

1 paper

NM_012401.4

p.E1252D

c.3756A>C

1 paper

NM_012401.4

p.V1217L

c.3649G>C

1 paper

NM_012401.4

p.M1209V

c.3625A>G

1 paper

NM_012401.4

p.Y1280H

c.3838T>C

1 paper

NM_012401.4

p.D1282N

c.3844G>A

1 paper

NM_012401.4

p.R1186C

c.3556C>T