Varaico: Literature-Extracted Genetic Variants

Gene:PLXNB2
Variant:p.V1636L

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.V1636L
c.4906G>C
Surrounding Variants
1 paper
NM_012401.4
p.V1636L
c.4906G>T
1 paper
NM_012401.4
p.Q1633P
c.4898A>C
1 paper
NM_012401.4
p.L1632fs
c.4894_4895fs
1 paper
NM_012401.4
p.A1645V
c.4934C>T
1 paper
NM_012401.4
p.V1650fs
c.4948_4949fs
1 paper
NM_012401.4
p.R1624W
c.4870C>T
1 paper
NM_012401.4
p.N1682K
c.5046C>G
1 paper
NM_012401.4
p.N1682K
c.5046C>A
1 paper
NM_012401.4
p.I1620F
c.4858A>T
1 paper
NM_012401.4
p.E1619D
c.4857G>T
1 paper
NM_012401.4
p.E1619D
c.4857G>C
1 paper
NM_012401.4
p.E1619K
c.4855G>A
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