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.R1637R

c.4911G>A

Surrounding Variants

1 paper

NM_005393.3

p.D1614N

c.4840G>A

1 paper

NM_005393.3

p.V1655fs

c.4963_4964fs

1 paper

NM_005393.3

p.V1655fs

c.4963_4964fs

1 paper

NM_005393.3

p.R1673Q

c.5018G>A

1 paper

NM_005393.3

p.I1688T

c.5063T>C

3 papers

NM_005393.3

p.V1596E

c.4787T>A

2 papers

NM_005393.3

p.T1702M

c.5105C>T

1 paper

NM_005393.3

p.G1584D

c.4751G>A

1 paper

NM_005393.3

p.Q1712*

c.5134C>T

1 paper

NM_005393.3

p.R1579H

c.4736G>A

1 paper

NM_005393.3

p.E1577Splc

c.4730-5T>A

1 paper

NM_005393.3

p.L1735L

c.5203C>T