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.R674H

c.2021G>A

Surrounding Variants

4 papers

NM_022370.4

p.R674C

c.2020C>T

1 paper

NM_022370.4

p.Q676*

c.2026C>T

1 paper

NM_022370.4

p.A669V

c.2006C>T

2 papers

NM_022370.4

p.P683L

c.2048C>T

1 paper

NM_022370.4

p.W662C

c.1986G>C

1 paper

NM_022370.4

p.W662C

c.1986G>T

1 paper

NM_022370.4

p.P657T

c.1969C>A

7 papers

NM_022370.4

p.T691_V692Splc

c.2073+1G>A

3 papers

NM_022370.4

p.R656R

c.1968G>A

1 paper

NM_022370.4

p.P654S

c.1960C>T

1 paper

NM_022370.4

p.D651D

c.1953T>C

1 paper

NM_022370.4

p.P695L

c.2084C>T