Varaico: Literature-Extracted Genetic Variants

Gene:PLXNB2
Variant:p.R837S

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.R837S
c.2511G>C
Surrounding Variants
1 paper
NM_012401.4
p.R837S
c.2511G>T
1 paper
NM_012401.4
p.R837T
c.2510G>C
1 paper
NM_012401.4
p.S839S
c.2517T>G
1 paper
NM_012401.4
p.D834A
c.2501A>C
2 papers
NM_012401.4
p.G842C
c.2524G>T
1 paper
NM_012401.4
p.G842S
c.2524G>A
1 paper
NM_012401.4
p.R843Q
c.2528G>A
1 paper
NM_012401.4
p.G829C
c.2485G>T
1 paper
NM_012401.4
p.L828F
c.2484G>T
1 paper
NM_012401.4
p.L828F
c.2484G>C
1 paper
NM_012401.4
p.N827S
c.2480A>G
1 paper
NM_012401.4
p.N827D
c.2479A>G
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