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.F394S

c.1181T>C

Surrounding Variants

1 paper

NM_002941.4

p.Q400*

c.1198C>T

1 paper

NM_002941.4

p.Q409H

c.1227G>T

1 paper

NM_002941.4

p.Q409H

c.1227G>C

1 paper

NM_002941.4

p.G411S

c.1231G>A

2 papers

NM_002941.4

p.D422G

c.1265A>G

1 paper

NM_002941.4

p.Q429H

c.1287G>T

1 paper

NM_002941.4

p.Q429H

c.1287G>C

1 paper

NM_002941.4

p.I437N

c.1310T>A

3 papers

NM_002941.4

p.V448Splc

c.1342+1G>A

1 paper

NM_002941.4

p.Q390*

c.1168C>T

1 paper

NM_002941.4

p.R385S

c.1155G>T

1 paper

NM_002941.4

p.R385S

c.1155G>C