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

5 papers

NM_002941.4

p.Y1114*

c.3342C>A

Surrounding Variants

5 papers

NM_002941.4

p.Y1114*

c.3342C>G

1 paper

NM_002941.4

p.K1124insFs

c.3370_3371insG

1 paper

NM_002941.4

p.S1091N

c.3272G>A

1 paper

NM_002941.4

p.M1087V

c.3259A>G

1 paper

NM_002941.4

p.Q1077*

c.3229C>T

2 papers

NM_002941.4

p.Q1069ins1

c.3205_3206insGGG

1 paper

NM_002941.4

p.P1066L

c.3197C>T

1 paper

NM_002941.4

p.D1060V

c.3179A>T

1 paper

NM_002941.4

p.D1060Y

c.3178G>T

1 paper

NM_002941.4

p.S1055fs

c.3163_3164fs

1 paper

NM_002941.4

p.F1053L

c.3159C>G

1 paper

NM_002941.4

p.F1053L

c.3159C>A