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

1–12 of 204 variants

33 papers

NM_005097.4

p.E383A

c.1148A>C

27 papers

NM_005097.4

p.C46R

c.136T>C

22 papers

NM_005097.4

p.S473L

c.1418C>T

21 papers

NM_005097.4

p.R136W

c.406C>T

20 papers

NM_005097.4

p.C200R

c.598T>C

20 papers

NM_005097.4

p.F318C

c.953T>G

18 papers

NM_005097.4

p.R407C

c.1219C>T

17 papers

NM_005097.4

p.C42R

c.124T>C

17 papers

NM_005097.4

p.S145R

c.435C>G

17 papers

NM_005097.4

p.V432E

c.1295T>A

16 papers

NM_005097.4

p.C42G

c.124T>G

15 papers

NM_005097.4

p.L232P

c.695T>C