Varaico: Literature-Extracted Genetic Variants

ROBO2

191 papers

RefSeq Summary

The protein encoded by this gene belongs to the ROBO family, part of the immunoglobulin superfamily of proteins that are highly conserved from fly to human. The encoded protein is a transmembrane rece...

Pfam Domains

Ig_3aa 30–114UCSCImmunoglobulin domain

Ig_3aa 134–207UCSCImmunoglobulin domain

Gene Aliases

HGNC Name

roundabout guidance receptor 2

HGNC Alias Symbol

KIAA1568

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_001395656.1

p.M598T

c.1793T>C

Surrounding Variants

3 papers

NM_002942.5

p.I598T

c.1793T>C

1 paper

NM_001395656.1

p.P612S

c.1834C>T

1 paper

NM_001395656.1

p.T585_V586del2

c.1753_1757del6

4 papers

NM_001395656.1

p.Y584C

c.1751A>G

NM_002942.5

p.Y580C

c.1739A>G

1 paper

NM_001395656.1

p.M613I

c.1839G>A

4 papers

NM_001395656.1

p.K580R

c.1739A>G

1 paper

NM_001395656.1

p.T619K

c.1856C>A

1 paper

NM_001395656.1

p.D621G

c.1862A>G

1 paper

NM_001395656.1

p.S571G

c.1711A>G

1 paper

NM_001395656.1

p.F564Y

c.1691T>A

2 papers

NM_001395656.1

p.W546*

c.1638G>A

2 papers

NM_001395656.1

p.W546*

c.1637G>A