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

2 papers

NM_022370.4

p.R262C

c.784C>T

Surrounding Variants

1 paper

NM_022370.4

p.R262H

c.785G>A

2 papers

NM_022370.4

p.F260L

c.780C>A

2 papers

NM_022370.4

p.F260L

c.780C>G

1 paper

NM_022370.4

p.P264S

c.790C>T

2 papers

NM_022370.4

p.F260L

c.778T>C

1 paper

NM_022370.4

p.P258S

c.772C>T

2 papers

NM_022370.4

p.R257P

c.770G>C

1 paper

NM_022370.4

p.E256fs

c.766_767fs

2 papers

NM_022370.4

p.E256Splc

c.767-1G>A

2 papers

NM_022370.4

p.E256_S259del0

c.767_775del9

2 papers

NM_022370.4

p.E256_S259delFs

c.767_776del10

1 paper

NM_022370.4

p.V281delFs

c.841delG