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.D787N

c.2359G>A

Surrounding Variants

1 paper

NM_005393.3

p.I784I

c.2352C>T

1 paper

NM_005393.3

p.A801T

c.2401G>A

1 paper

NM_005393.3

p.G806C

c.2416G>T

1 paper

NM_005393.3

p.H779H

c.2337T>C

1 paper

NM_005393.3

p.Q769R

c.2306A>G

1 paper

NM_005393.3

p.L761I

c.2281C>A

1 paper

NM_005393.3

p.V871M

c.2611G>A

1 paper

NM_005393.3

p.R706Q

c.2117G>A

1 paper

NM_005393.3

p.A702V

c.2105C>T

1 paper

NM_005393.3

p.P899L

c.2696C>T

1 paper

NM_005393.3

p.N900S

c.2699A>G

1 paper

NM_005393.3

p.R676H

c.2027G>A