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

1–12 of 438 variants

16 papers

NM_022370.4

p.G608S

c.1822G>A

14 papers

NM_022370.4

p.G608G

c.1824C>T

14 papers

NM_022370.4

p.R703P

c.2108G>C

13 papers

NM_022370.4

p.E319K

c.955G>A

10 papers

NM_022370.4

p.L5P

c.14T>C

9 papers

NM_022370.4

p.T623S

c.1868C>G

9 papers

NM_022370.4

p.S705P

c.2113T>C

8 papers

NM_022370.4

p.I66L

c.196A>C

8 papers

NM_022370.4

p.G456*

c.1366G>T

7 papers

NM_022370.4

p.R245W

c.733C>T

7 papers

NM_022370.4

p.T623S

c.1867A>T

7 papers

NM_022370.4

p.T691_V692Splc

c.2073+1G>A