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

7 papers

NM_022370.4

p.T623S

c.1867A>T

Surrounding Variants

9 papers

NM_022370.4

p.T623S

c.1868C>G

1 paper

NM_022370.4

p.I624T

c.1871T>C

1 paper

NM_022370.4

p.G618S

c.1852G>A

6 papers

NM_022370.4

p.V629delFs

c.1886_1887delTT

1 paper

NM_022370.4

p.V629fs

c.1885_1886fs

1 paper

NM_022370.4

p.R630Q

c.1889G>A

1 paper

NM_022370.4

p.T613I

c.1838C>T

1 paper

NM_022370.4

p.G633R

c.1897G>A

1 paper

NM_022370.4

p.G633R

c.1897G>C

1 paper

NM_022370.4

p.E612E

c.1836G>A

4 papers

NM_022370.4

p.T615delFs

c.1844_1845delCA

14 papers

NM_022370.4

p.G608G

c.1824C>T