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.A620V

c.1859C>T

Surrounding Variants

2 papers

NM_133631.4

p.E581K

c.1741G>A

1 paper

NM_002941.4

p.K615Fs

c.1844_1845delinsTAAGFs

1 paper

NM_002941.4

p.K625R

c.1874A>G

1 paper

NM_002941.4

p.K615fs

c.1843_1844fs

1 paper

NM_002941.4

p.N613H

c.1837A>C

1 paper

NM_002941.4

p.V610I

c.1828G>A

1 paper

NM_002941.4

p.R635S

c.1905G>T

1 paper

NM_002941.4

p.R635S

c.1905G>C

1 paper

NM_002941.4

p.H601R

c.1802A>G

1 paper

NM_002941.4

p.G641E

c.1922G>A

1 paper

NM_002941.4

p.I648fs

c.1942_1943fs

1 paper

NM_002941.4

p.I648delFs

c.1942delT