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.Q1379H

c.4137G>T

Surrounding Variants

1 paper

NM_012401.4

p.Q1379H

c.4137G>C

1 paper

NM_012401.4

p.L1376_Q1379del0

c.4127_4135del9

1 paper

NM_012401.4

p.K1387*

c.4159A>T

1 paper

NM_012401.4

p.T1371M

c.4112C>T

1 paper

NM_012401.4

p.E1363V

c.4088A>T

1 paper

NM_012401.4

p.V1356E

c.4067T>A

1 paper

NM_012401.4

p.K1347E

c.4039A>G

1 paper

NM_012401.4

p.R1345R

c.4035C>T

1 paper

NM_012401.4

p.R1345H

c.4034G>A

1 paper

NM_012401.4

p.N1331S

c.3992A>G

1 paper

NM_012401.4

p.F1328_L1329delFs

c.3982_3986del5

1 paper

NM_012401.4

p.F1328fs

c.3982_3983fs