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.E319fs

c.955_956fs

Surrounding Variants

13 papers

NM_022370.4

p.E319K

c.955G>A

1 paper

NM_022370.4

p.A318T

c.952G>A

1 paper

NM_022370.4

p.D320N

c.958G>A

1 paper

NM_022370.4

p.D320delFs

c.960delT

4 papers

NM_022370.4

p.T323M

c.968C>T

1 paper

NM_022370.4

p.G314W

c.940G>T

1 paper

NM_022370.4

p.A328V

c.983C>T

1 paper

NM_022370.4

p.E329G

c.986A>G

1 paper

NM_022370.4

p.R306Q

c.917G>A

4 papers

NM_022370.4

p.I305Fs

c.913delinsTGCFs

1 paper

NM_022370.4

p.I305fs

c.913_914fs

1 paper

NM_022370.4

p.R302R

c.906G>A