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

1–12 of 121 variants

3 papers

NM_005393.3

p.V1596E

c.4787T>A

2 papers

NM_005393.3

p.V598I

c.1792G>A

2 papers

NM_005393.3

p.R676C

c.2026C>T

2 papers

NM_005393.3

p.E1156D

c.3468G>C

2 papers

NM_005393.3

p.E1156D

c.3468G>T

2 papers

NM_005393.3

p.T1702M

c.5105C>T

2 papers

NM_005393.3

p.S1797L

c.5390C>T

1 paper

NM_005393.3

p.M1V

c.1A>G

1 paper

NM_005393.3

p.L33L

c.97C>T

1 paper

NM_005393.3

p.T42S

c.124A>T

1 paper

NM_005393.3

p.A44V

c.131C>T

1 paper

NM_005393.3

p.L77F

c.229C>T