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

5 papers

NM_022370.4

p.P478L

c.1433C>T

Surrounding Variants

1 paper

NM_022370.4

p.P478fs

c.1432_1433fs

2 papers

NM_022370.4

p.P480S

c.1438C>T

1 paper

NM_022370.4

p.T475I

c.1424C>T

1 paper

NM_022370.4

p.R483*

c.1447C>T

5 papers

NM_022370.4

p.W484R

c.1450T>A

5 papers

NM_022370.4

p.W484R

c.1450T>C

1 paper

NM_022370.4

p.W484fs

c.1450_1451fs

1 paper

NM_022370.4

p.P471L

c.1412C>T

1 paper

NM_022370.4

p.K486T

c.1457A>C

2 papers

NM_022370.4

p.K486N

c.1458G>C

2 papers

NM_022370.4

p.K486N

c.1458G>T

1 paper

NM_022370.4

p.G488_Q489ins5

c.1462_1466ins15