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

27 papers

NM_005097.4

p.C46R

c.136T>C

Surrounding Variants

10 papers

NM_005097.4

p.C46F

c.137G>T

1 paper

NM_005097.4

p.T47_C48delFs

c.141_144del4

1 paper

NM_005097.4

p.C48fs

c.142_143fs

1 paper

NM_005097.4

p.C48F

c.143G>T

4 papers

NM_005097.4

p.P43R

c.128C>G

2 papers

NM_005097.4

p.P43L

c.128C>T

17 papers

NM_005097.4

p.C42R

c.124T>C

16 papers

NM_005097.4

p.C42G

c.124T>G

3 papers

NM_005097.4

p.D51G

c.152A>G

1 paper

NM_005097.4

p.C55F

c.164G>T

1 paper

NM_005097.4

p.K36*

c.106A>T

1 paper

NM_005097.4

p.L30F

c.90G>C