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.F1100L

c.3300C>G

Surrounding Variants

1 paper

NM_012401.4

p.F1100L

c.3300C>A

1 paper

NM_012401.4

p.F1100L

c.3298T>C

1 paper

NM_012401.4

p.E1098*

c.3292G>T

1 paper

NM_012401.4

p.Y1091*

c.3273C>G

1 paper

NM_012401.4

p.Y1091*

c.3273C>A

2 papers

NM_012401.4

p.A1086T

c.3256G>A

1 paper

NM_012401.4

p.R1115Q

c.3344G>A

1 paper

NM_012401.4

p.I1073M

c.3219C>G

1 paper

NM_012401.4

p.P1058S

c.3172C>T

1 paper

NM_012401.4

p.V1054V

c.3162C>T

1 paper

NM_012401.4

p.T1143M

c.3428C>T

1 paper

NM_012401.4

p.Y1148C

c.3443A>G