Varaico: Literature-Extracted Genetic Variants

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.M245V

c.733A>G

Surrounding Variants

2 papers

NM_002941.4

p.N244D

c.730A>G

1 paper

NM_002941.4

p.G242V

c.725G>T

1 paper

NM_002941.4

p.C240delFs

c.719delC

1 paper

NM_002941.4

p.R249H

c.746G>A

6 papers

NM_002941.4

p.C240S

c.719G>C

6 papers

NM_002941.4

p.C240S

c.718T>A

2 papers

NM_002941.4

p.E255K

c.763G>A

1 paper

NM_002941.4

p.E260*

c.778G>T

1 paper

NM_002941.4

p.E260Splc

c.778+1G>T

1 paper

NM_002941.4

p.Y229*

c.687C>G

1 paper

NM_002941.4

p.Y229*

c.687C>A

1 paper

NM_002941.4

p.I227V

c.679A>G