Varaico: Literature-Extracted Genetic Variants

SLIT2

225 papers

RefSeq Summary

This gene encodes a member of the slit family of secreted glycoproteins, which are ligands for the Robo family of immunoglobulin receptors. Slit proteins play highly conserved roles in axon guidance a...

Pfam Domains

LRRNTaa 27–54UCSCLeucine rich repeat N-terminal domain

LRR_8aa 55–115UCSCLeucine rich repeat

LRR_8aa 107–163UCSCLeucine rich repeat

LRR_8aa 152–211UCSCLeucine rich repeat

LRRCTaa 234–258UCSCLeucine rich repeat C-terminal domain

LRRNTaa 272–299UCSCLeucine rich repeat N-terminal domain

Gene Aliases

HGNC Name

slit guidance ligand 2

HGNC Previous Symbol

SLIL3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004787.4

p.P29L

c.86C>T

Surrounding Variants

1 paper

NM_004787.4

p.K22R

c.65A>G

1 paper

NM_004787.4

p.S37T

c.110G>C

1 paper

NM_004787.4

p.T38R

c.113C>G

1 paper

NM_004787.4

p.H42D

c.124C>G

1 paper

NM_004787.4

p.L15L

c.45A>G

2 papers

NM_004787.4

p.G14R

c.40G>A

2 papers

NM_004787.4

p.G14R

c.40G>C

1 paper

NM_004787.4

p.A45S

c.133G>T

1 paper

NM_004787.4

p.R47C

c.139C>T

1 paper

NM_004787.4

p.V49M

c.145G>A

1 paper

NM_004787.4

p.P50_R51delFs

c.150_153del4

1 paper

NM_004787.4

p.Q7K

c.19C>A