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.K1440M

c.4319A>T

Surrounding Variants

1 paper

NM_005393.3

p.D1400N

c.4198G>A

1 paper

NM_005393.3

p.S1395N

c.4184G>A

1 paper

NM_005393.3

p.L1390L

c.4168C>T

1 paper

NM_005393.3

p.L1381F

c.4141C>T

1 paper

NM_005393.3

p.R1367C

c.4099C>T

1 paper

NM_005393.3

p.H1345Y

c.4033C>T

1 paper

NM_005393.3

p.R1334R

c.4002C>T

1 paper

NM_005393.3

p.G1300R

c.3898G>C

1 paper

NM_005393.3

p.T1299I

c.3896C>T

1 paper

NM_005393.3

p.M1519I

c.4557G>A

1 paper

NM_005393.3

p.M1519I

c.4557G>C

1 paper

NM_005393.3

p.M1519I

c.4557G>T