Varaico: Literature-Extracted Genetic Variants

Gene:PLXNB2
Variant:p.R1538W

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
3 papers
NM_012401.4
p.R1538W
c.4612C>T
Surrounding Variants
1 paper
NM_012401.4
p.G1537S
c.4609G>A
1 paper
NM_012401.4
p.S1527L
c.4580C>T
2 papers
NM_012401.4
p.P1519P
c.4557G>A
1 paper
NM_012401.4
p.N1549_V1550Splc
c.4647+34G>A
2 papers
NM_012401.4
p.A1554T
c.4660G>A
2 papers
NM_012401.4
p.D1573E
c.4719C>G
2 papers
NM_012401.4
p.D1573E
c.4719C>A
1 paper
NM_012401.4
p.S1505S
c.4515C>T
1 paper
NM_012401.4
p.E1492E
c.4476G>A
1 paper
NM_012401.4
p.P1478L
c.4433C>T
2 papers
NM_012401.4
p.E1472K
c.4414G>A
1 paper
NM_012401.4
p.A1580V
c.4739C>T
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