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

7 papers

NM_022370.4

p.R245W

c.733C>T

Surrounding Variants

1 paper

NM_022370.4

p.R245fs

c.733_734fs

1 paper

NM_022370.4

p.E246K

c.736G>A

1 paper

NM_022370.4

p.A242V

c.725C>T

1 paper

NM_022370.4

p.A248V

c.743C>T

1 paper

NM_022370.4

p.V252I

c.754G>A

1 paper

NM_022370.4

p.V237I

c.709G>A

1 paper

NM_022370.4

p.G232D

c.695G>A

2 papers

NM_022370.4

p.D230N

c.688G>A

1 paper

NM_022370.4

p.R217fs

c.649_650fs

1 paper

NM_022370.4

p.R217insFs

c.649dupC

2 papers

NM_022370.4

p.E256Splc

c.767-1G>A

2 papers

NM_022370.4

p.E256_S259del0

c.767_775del9