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.V154fs

c.460_461fs

Surrounding Variants

1 paper

NM_012401.4

p.V154delFs

c.461_462delCA

1 paper

NM_012401.4

p.A152del1

c.454_456delGGC

1 paper

NM_012401.4

p.E149A

c.446A>C

1 paper

NM_012401.4

p.G161A

c.482G>C

1 paper

NM_012401.4

p.V144M

c.430G>A

1 paper

NM_012401.4

p.G139R

c.415G>C

1 paper

NM_012401.4

p.G139R

c.415G>A

10 papers

NM_012401.4

p.D178N

c.532G>A

1 paper

NM_012401.4

p.D178G

c.533A>G

1 paper

NM_012401.4

p.L125Q

c.374T>A

1 paper

NM_012401.4

p.R186W

c.556C>T

1 paper

NM_012401.4

p.G118D

c.353G>A