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.E4V

c.11A>T

Surrounding Variants

1 paper

NM_005097.4

p.S3insFs

c.7dupT

1 paper

NM_005097.4

p.M1K

c.2T>A

1 paper

NM_005097.4

p.M1V

c.1A>G

1 paper

NM_005097.4

p.M1_S6del0

c.1_18del18

1 paper

NM_005097.4

p.P15A

c.43C>G

1 paper

NM_005097.4

p.L26S

c.77T>C

1 paper

NM_005097.4

p.L30F

c.90G>C

1 paper

NM_005097.4

p.L30F

c.90G>T

1 paper

NM_005097.4

p.K36*

c.106A>T

17 papers

NM_005097.4

p.C42R

c.124T>C

16 papers

NM_005097.4

p.C42G

c.124T>G

4 papers

NM_005097.4

p.P43R

c.128C>G