Varaico: Literature-Extracted Genetic Variants

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.D614Y

c.1840G>T

Surrounding Variants

1 paper

NM_012401.4

p.R616C

c.1846C>T

1 paper

NM_012401.4

p.E623K

c.1867G>A

1 paper

NM_012401.4

p.V631M

c.1891G>A

2 papers

NM_012401.4

p.R634H

c.1901G>A

1 paper

NM_012401.4

p.R659C

c.1975C>T

1 paper

NM_012401.4

p.E663fs

c.1987_1988fs

1 paper

NM_012401.4

p.P667fs

c.1999_2000fs

1 paper

NM_012401.4

p.P674P

c.2022C>T

1 paper

NM_012401.4

p.N691Y

c.2071A>T

1 paper

NM_012401.4

p.D588Splc

c.1762+15C>T

1 paper

NM_012401.4

p.P584L

c.1751C>T

1 paper

NM_012401.4

p.A571A

c.1713C>T