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.K7Q

c.19A>C

Surrounding Variants

10 papers

NM_022370.4

p.L5P

c.14T>C

1 paper

NM_022370.4

p.L5insFs

c.14_15insA

1 paper

NM_022370.4

p.L5delFs

c.14delT

1 paper

NM_022370.4

p.L10insFs

c.28_29insA

1 paper

NM_022370.4

p.R3H

c.8G>A

1 paper

NM_022370.4

p.R3delFs

c.7delC

1 paper

NM_022370.4

p.L2insFs

c.4_5insT

1 paper

NM_022370.4

p.M1_L2insFs

c.3_4insA

2 papers

NM_022370.4

p.M1_L6del0

c.2_16del15

1 paper

NM_022370.4

p.L14F

c.42G>C

1 paper

NM_022370.4

p.L14F

c.42G>T

1 paper

NM_022370.4

p.S26P

c.76T>C