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

2 papers

NM_002941.4

p.R1504*

c.4510C>T

Surrounding Variants

1 paper

NM_002941.4

p.P1505S

c.4513C>T

1 paper

NM_002941.4

p.K1491M

c.4472A>T

1 paper

NM_002941.4

p.D1519N

c.4555G>A

1 paper

NM_002941.4

p.P1482_V1485del0

c.4444_4455del12

2 papers

NM_002941.4

p.S1522L

c.4565C>T

1 paper

NM_002941.4

p.G1537*

c.4609G>T

3 papers

NM_002941.4

p.G1537E

c.4610G>A

1 paper

NM_002941.4

p.R1538T

c.4613G>C

2 papers

NM_002941.4

p.N1546Y

c.4636A>T

1 paper

NM_002941.4

p.G1548D

c.4643G>A

1 paper

NM_002941.4

p.G1560W

c.4678G>T

2 papers

NM_002941.4

p.K1561N

c.4683A>T