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.G1758R

c.5272G>C

Surrounding Variants

1 paper

NM_012401.4

p.G1758R

c.5272G>A

1 paper

NM_012401.4

p.R1760W

c.5278C>T

1 paper

NM_012401.4

p.R1760L

c.5279G>T

1 paper

NM_012401.4

p.M1770del1

c.5308_5309delCAT

1 paper

NM_012401.4

p.R1779W

c.5335C>T

1 paper

NM_012401.4

p.R1779del1

c.5335_5336delCCG

2 papers

NM_012401.4

p.Y1748Y

c.5244C>T

1 paper

NM_012401.4

p.R1732_D1733Splc

c.5197-7C>A

1 paper

NM_012401.4

p.Q1796P

c.5387A>C

4 papers

NM_012401.4

p.E1804K

c.5410G>A

1 paper

NM_012401.4

p.E1810*

c.5428G>T

1 paper

NM_012401.4

p.E1727*

c.5179G>T