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.R1186C

c.3556C>T

Surrounding Variants

1 paper

NM_012401.4

p.V1183M

c.3547G>A

1 paper

NM_012401.4

p.M1209V

c.3625A>G

1 paper

NM_012401.4

p.V1217L

c.3649G>C

1 paper

NM_012401.4

p.H1168_N1169ins6

c.3502_3506ins18

1 paper

NM_012401.4

p.K1159M

c.3476A>T

1 paper

NM_012401.4

p.Q1155H

c.3465G>T

1 paper

NM_012401.4

p.Q1155H

c.3465G>C

1 paper

NM_012401.4

p.V1154M

c.3460G>A

1 paper

NM_012401.4

p.Y1148C

c.3443A>G

1 paper

NM_012401.4

p.T1143M

c.3428C>T

1 paper

NM_012401.4

p.Q1226E

c.3676C>G

1 paper

NM_012401.4

p.A1227fs

c.3679_3680fs