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.L454P

c.1361T>C

Surrounding Variants

3 papers

NM_022370.4

p.Q455_G456delFs

c.1365_1366delGG

8 papers

NM_022370.4

p.G456*

c.1366G>T

1 paper

NM_022370.4

p.G456fs

c.1366_1367fs

1 paper

NM_022370.4

p.V452I

c.1354G>A

6 papers

NM_022370.4

p.Q460R

c.1379A>G

2 papers

NM_022370.4

p.V468M

c.1402G>A

1 paper

NM_022370.4

p.P471L

c.1412C>T

1 paper

NM_022370.4

p.T475I

c.1424C>T

1 paper

NM_022370.4

p.P478fs

c.1432_1433fs

5 papers

NM_022370.4

p.P478L

c.1433C>T

2 papers

NM_022370.4

p.P480S

c.1438C>T

1 paper

NM_022370.4

p.R483*

c.1447C>T