Varaico: Literature-Extracted Genetic Variants

Gene:ROBO1
Variant:p.Q390*

ROBO1

238 papers

RefSeq Summary

Bilateral symmetric nervous systems have special midline structures that establish a partition between the two mirror image halves. Some axons project toward and across the midline in response to long...

Pfam Domains

Ig_3aa 67–151UCSCImmunoglobulin domain
I-setaa 170–258UCSCImmunoglobulin I-set domain
I-setaa 262–347UCSCImmunoglobulin I-set domain
Ig_3aa 350–432UCSCImmunoglobulin domain
Ig_3aa 454–529UCSCImmunoglobulin domain
fn3aa 562–652UCSCFibronectin type III domain

Gene Aliases

HGNC Name

roundabout guidance receptor 1

HGNC Alias Symbols

DUTT1; FLJ21882; SAX3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002941.4
p.Q390*
c.1168C>T
Surrounding Variants
1 paper
NM_002941.4
p.R385S
c.1155G>T
1 paper
NM_002941.4
p.R385S
c.1155G>C
1 paper
NM_002941.4
p.W384L
c.1151G>T
1 paper
NM_002941.4
p.I382delFs
c.1146delA
1 paper
NM_002941.4
p.G376E
c.1127G>A
1 paper
NM_002941.4
p.R358H
c.1073G>A
1 paper
NM_002941.4
p.R358C
c.1072C>T
1 paper
NM_002941.4
p.E349Splc
c.1046-1G>A
1 paper
NM_002941.4
p.E349Splc
c.1046-27C>T
1 paper
NM_002941.4
p.F394S
c.1181T>C
1 paper
NM_002941.4
p.Q400*
c.1198C>T
1 paper
NM_002941.4
p.Q409H
c.1227G>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."