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

20 papers

NM_005097.4

p.F318C

c.953T>G

Surrounding Variants

1 paper

NM_005097.4

p.F318Y

c.953T>A

1 paper

NM_005097.4

p.Q322*

c.964C>T

1 paper

NM_005097.4

p.S313G

c.937A>G

1 paper

NM_005097.4

p.D312fs

c.934_935fs

1 paper

NM_005097.4

p.R311delFs

c.933delA

1 paper

NM_005097.4

p.E325D

c.975A>C

1 paper

NM_005097.4

p.E325D

c.975A>T

1 paper

NM_005097.4

p.R311*

c.931C>T

1 paper

NM_005097.4

p.I326V

c.976A>G

1 paper

NM_005097.4

p.R330*

c.988C>T

1 paper

NM_005097.4

p.F303V

c.907T>G

1 paper

NM_005097.4

p.Q301*

c.901C>T