Varaico: Literature-Extracted Genetic Variants

LGI1

196 papers

RefSeq Summary

This gene encodes a member of the secreted leucine-rich repeat (LRR) superfamily and shares homology with members of the SLIT protein family. The encoded protein may regulate the activity of voltage-g...

Pfam Domains

LRR_8aa 69–127UCSCLeucine rich repeat

LRR_8aa 115–175UCSCLeucine rich repeat

EPTPaa 225–266UCSCEPTP domain

EPTPaa 271–312UCSCEPTP domain

EPTPaa 317–363UCSCEPTP domain

Gene Aliases

HGNC Name

leucine rich glioma inactivated 1

HGNC Previous Symbol

EPT

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

7 papers

NM_005097.4

p.P204delFs

c.611delC

Surrounding Variants

1 paper

NM_005097.4

p.P203_Y206delFs

c.607_616del10

20 papers

NM_005097.4

p.C200R

c.598T>C

4 papers

NM_005097.4

p.C200delFs

c.598delT

1 paper

NM_005097.4

p.E205D

c.615A>C

1 paper

NM_005097.4

p.E205D

c.615A>T

1 paper

NM_005097.4

p.I198_Y199insFs

c.594_597dup4

1 paper

NM_005097.4

p.K207R

c.620A>G

1 paper

NM_005097.4

p.R209H

c.626G>A

6 papers

NM_005097.4

p.L214P

c.641T>C

1 paper

NM_005097.4

p.L188F

c.562C>T

1 paper

NM_005097.4

p.F219V

c.655T>G

1 paper

NM_005097.4

p.C221W

c.663C>G