Varaico: Literature-Extracted Genetic Variants

PLXNB3

102 papers

RefSeq Summary

The protein encoded by this gene is a member of the plexin family. It functions as a receptor for semaphorin 5A, and plays a role in axon guidance, invasive growth and cell migration. Alternatively sp...

Pfam Domains

Semaaa 289–452UCSCSema domain

PSIaa 473–526UCSCPlexin repeat

TIG_plexinaa 532–619UCSCTIG domain

PSI_PlexinA-Baa 633–658UCSCPlexin A/B, PSI domain

TIG_2aa 689–786UCSCTIG domain found in plexin

TIGaa 835–925UCSCIPT/TIG domain

Gene Aliases

HGNC Name

plexin B3

HGNC Previous Symbol

PLXN6

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005393.3

p.R249S

c.745C>A

Surrounding Variants

1 paper

NM_005393.3

p.L268P

c.803T>C

1 paper

NM_005393.3

p.G269A

c.806G>C

1 paper

NM_005393.3

p.V223G

c.668T>G

1 paper

NM_005393.3

p.R221H

c.662G>A

1 paper

NM_005393.3

p.L219fs

c.655_656fs

1 paper

NM_005393.3

p.A282T

c.844G>A

1 paper

NM_005393.3

p.Q311*

c.931C>T

1 paper

NM_005393.3

p.V320M

c.958G>A

1 paper

NM_005393.3

p.G340S

c.1018G>A

1 paper

NM_005393.3

p.G146V

c.437G>T

1 paper

NM_005393.3

p.V358I

c.1072G>A

1 paper

NM_005393.3

p.P361P

c.1083C>T