Varaico: Literature-Extracted Genetic Variants

Gene:PLXNB2
Variant:p.M710I

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.M710I
c.2130G>A
Surrounding Variants
1 paper
NM_012401.4
p.M710I
c.2130G>T
1 paper
NM_012401.4
p.M710I
c.2130G>C
1 paper
NM_012401.4
p.K708insFs
c.2123_2124insAC
1 paper
NM_012401.4
p.D705Y
c.2113G>T
1 paper
NM_012401.4
p.D705N
c.2113G>A
1 paper
NM_012401.4
p.Q716H
c.2148G>T
1 paper
NM_012401.4
p.Q716H
c.2148G>C
1 paper
NM_012401.4
p.G697R
c.2089G>C
1 paper
NM_012401.4
p.K727_L728Splc
c.2181+4C>T
1 paper
NM_012401.4
p.K727_L728Splc
c.2182-12C>T
1 paper
NM_012401.4
p.D731N
c.2191G>A
1 paper
NM_012401.4
p.G746C
c.2236G>T
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