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

2 papers

NM_005393.3

p.E1156D

c.3468G>T

Surrounding Variants

2 papers

NM_005393.3

p.E1156D

c.3468G>C

1 paper

NM_005393.3

p.R1160L

c.3479G>T

1 paper

NM_005393.3

p.N1147K

c.3441C>A

1 paper

NM_005393.3

p.N1147K

c.3441C>G

1 paper

NM_005393.3

p.E1173_G1174insFs

c.3519_3520insCA

1 paper

NM_005393.3

p.R1121Q

c.3362G>A

1 paper

NM_005393.3

p.P1114L

c.3341C>T

1 paper

NM_005393.3

p.R1109Q

c.3326G>A

1 paper

NM_005393.3

p.E1184K

c.3550G>A

1 paper

NM_005393.3

p.E1194D

c.3582G>C

1 paper

NM_005393.3

p.T1199T

c.3597G>A

1 paper

NM_005393.3

p.L1222L

c.3666G>A