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

1 paper

NM_005097.4

p.N274N

c.822T>C

Surrounding Variants

1 paper

NM_005097.4

p.T271I

c.812C>T

1 paper

NM_005097.4

p.K270N

c.810G>C

1 paper

NM_005097.4

p.K270N

c.810G>T

1 paper

NM_005097.4

p.T279delFs

c.836delC

1 paper

NM_005097.4

p.W265*

c.795G>A

1 paper

NM_005097.4

p.W265*

c.794G>A

1 paper

NM_005097.4

p.L263I

c.787C>A

1 paper

NM_005097.4

p.L263V

c.787C>G

1 paper

NM_005097.4

p.P255_T257del3

c.763_770del9

1 paper

NM_005097.4

p.A253T

c.757G>A

10 papers

NM_005097.4

p.A253delFs

c.758delC

1 paper

NM_005097.4

p.A253fs

c.757_758fs