Varaico: Literature-Extracted Genetic Variants

ROBO3

344 papers

RefSeq Summary

This gene is a member of the Roundabout (ROBO) gene family that controls neurite outgrowth, growth cone guidance, and axon fasciculation. ROBO proteins are a subfamily of the immunoglobulin transmembr...

Pfam Domains

Ig_3aa 63–147UCSCImmunoglobulin domain

I-setaa 166–254UCSCImmunoglobulin I-set domain

I-setaa 258–343UCSCImmunoglobulin I-set domain

Ig_3aa 346–428UCSCImmunoglobulin domain

I-setaa 451–538UCSCImmunoglobulin I-set domain

fn3aa 557–647UCSCFibronectin type III domain

Gene Aliases

HGNC Name

roundabout guidance receptor 3

HGNC Previous Symbol

HGPPS

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_022370.4

p.E138K

c.412G>A

Surrounding Variants

1 paper

NM_022370.4

p.G139S

c.415G>A

1 paper

NM_022370.4

p.G139fs

c.415_416fs

3 papers

NM_022370.4

p.G139V

c.416G>T

1 paper

NM_022370.4

p.Y141insFs

c.422_423ins5

1 paper

NM_022370.4

p.A134delFs

c.400delG

1 paper

NM_022370.4

p.R133H

c.398G>A

2 papers

NM_022370.4

p.R133P

c.398G>C

3 papers

NM_022370.4

p.R133L

c.398G>T

2 papers

NM_022370.4

p.A145T

c.433G>A

1 paper

NM_022370.4

p.R146S

c.436C>A

2 papers

NM_022370.4

p.R146H

c.437G>A

1 paper

NM_022370.4

p.R146P

c.437G>C