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.T664I

c.1991C>T

Surrounding Variants

1 paper

NM_005393.3

p.E660*

c.1978G>T

1 paper

NM_005393.3

p.P647L

c.1940C>T

1 paper

NM_005393.3

p.R642G

c.1924C>G

1 paper

NM_005393.3

p.P632P

c.1896G>C

2 papers

NM_005393.3

p.R676C

c.2026C>T

1 paper

NM_005393.3

p.R676H

c.2027G>A

1 paper

NM_005393.3

p.V624I

c.1870G>A

1 paper

NM_005393.3

p.A702V

c.2105C>T

1 paper

NM_005393.3

p.R706Q

c.2117G>A

2 papers

NM_005393.3

p.V598I

c.1792G>A

1 paper

NM_005393.3

p.P592S

c.1774C>T

1 paper

NM_005393.3

p.V573E

c.1718T>A