Varaico: Literature-Extracted Genetic Variants

Gene:PLXNB2
Variant:p.G12V

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
2 papers
NM_012401.4
p.G12V
c.35G>T
Surrounding Variants
1 paper
NM_012401.4
p.L10M
c.28C>A
1 paper
NM_012401.4
p.A18P
c.52G>C
1 paper
NM_012401.4
p.L5V
c.13C>G
1 paper
NM_012401.4
p.Q4L
c.11A>T
1 paper
NM_012401.4
p.R21R
c.63G>A
1 paper
NM_012401.4
p.R23C
c.67C>T
1 paper
NM_012401.4
p.M1V
c.1A>G
1 paper
NM_012401.4
p.F28L
c.82T>C
1 paper
NM_012401.4
p.F28L
c.84C>G
1 paper
NM_012401.4
p.F28L
c.84C>A
1 paper
NM_012401.4
p.V39V
c.117G>A
1 paper
NM_012401.4
p.V51V
c.153G>C
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