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

15 papers

NM_005097.4

p.L232P

c.695T>C

Surrounding Variants

1 paper

NM_005097.4

p.L232L

c.694C>T

1 paper

NM_005097.4

p.P233A

c.697C>G

1 paper

NM_005097.4

p.Q235*

c.703C>T

1 paper

NM_005097.4

p.L237F

c.711G>C

1 paper

NM_005097.4

p.L237F

c.711G>T

3 papers

NM_005097.4

p.F226C

c.677T>G

1 paper

NM_005097.4

p.E225Splc

c.674-18T>C

1 paper

NM_005097.4

p.V250insFs

c.749dupT

1 paper

NM_005097.4

p.V251fs

c.751_752fs

1 paper

NM_005097.4

p.V251_I252del1

c.752_754delTCA

1 paper

NM_005097.4

p.I252I

c.756C>T

1 paper

NM_005097.4

p.A253T

c.757G>A