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.A1235A

c.3705C>T

Surrounding Variants

1 paper

NM_005393.3

p.M1229I

c.3687G>A

1 paper

NM_005393.3

p.M1229I

c.3687G>C

1 paper

NM_005393.3

p.M1229I

c.3687G>T

1 paper

NM_005393.3

p.E1244K

c.3730G>A

1 paper

NM_005393.3

p.V1252V

c.3756G>T

1 paper

NM_005393.3

p.L1272V

c.3814C>G

1 paper

NM_005393.3

p.L1222L

c.3666G>A

1 paper

NM_005393.3

p.T1199T

c.3597G>A

1 paper

NM_005393.3

p.E1194D

c.3582G>C

1 paper

NM_005393.3

p.E1184K

c.3550G>A

1 paper

NM_005393.3

p.R1277Splc

c.3831-10C>T

1 paper

NM_005393.3

p.R1285W

c.3853C>T