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

1 paper

NM_022370.4

p.P695L

c.2084C>T

Surrounding Variants

2 papers

NM_022370.4

p.G701V

c.2102G>T

1 paper

NM_022370.4

p.R703Q

c.2108G>A

14 papers

NM_022370.4

p.R703P

c.2108G>C

1 paper

NM_022370.4

p.S705T

c.2113T>A

9 papers

NM_022370.4

p.S705P

c.2113T>C

1 paper

NM_022370.4

p.A746T

c.2236G>A

1 paper

NM_022370.4

p.A746D

c.2237C>A

1 paper

NM_022370.4

p.G753R

c.2257G>A

1 paper

NM_022370.4

p.G753R

c.2257G>C

1 paper

NM_022370.4

p.E765G

c.2294A>G

7 papers

NM_022370.4

p.T691_V692Splc

c.2073+1G>A

1 paper

NM_022370.4

p.A767V

c.2300C>T