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.R77Q

c.230G>A

Surrounding Variants

1 paper

NM_022370.4

p.P80fs

c.238_239fs

1 paper

NM_022370.4

p.L74R

c.221T>G

1 paper

NM_022370.4

p.A81T

c.241G>A

1 paper

NM_022370.4

p.A81G

c.242C>G

1 paper

NM_022370.4

p.T82A

c.244A>G

1 paper

NM_022370.4

p.P70R

c.209C>G

1 paper

NM_022370.4

p.C85Y

c.254G>A

1 paper

NM_022370.4

p.R86C

c.256C>T

8 papers

NM_022370.4

p.I66L

c.196A>C

1 paper

NM_022370.4

p.I66fs

c.196_197fs

1 paper

NM_022370.4

p.R90P

c.269G>C

6 papers

NM_022370.4

p.P91S

c.271C>T