Varaico: Literature-Extracted Genetic Variants

Gene:ROBO1
Variant:p.K2I

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.K2I
c.5A>T
Surrounding Variants
1 paper
NM_002941.4
p.K2delFs
c.4delT
3 papers
NM_002941.4
p.M1I
c.3G>A
2 papers
NM_002941.4
p.W3insFs
c.7dupT
1 paper
NM_002941.4
p.P7T
c.19C>A
1 paper
NM_002941.4
p.L14I
c.40C>A
1 paper
NM_002941.4
p.S16R
c.46A>C
1 paper
NM_002941.4
p.S16R
c.48C>G
1 paper
NM_002941.4
p.S16R
c.48C>A
1 paper
NM_002941.4
p.H21H
c.63C>T
1 paper
NM_002941.4
p.L24L
c.70C>T
1 paper
NM_002941.4
p.A25T
c.73G>A
2 papers
NM_002941.4
p.L27R
c.80T>G
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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."