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.E386D

c.1158A>T

Surrounding Variants

13 papers

NM_005097.4

p.L385R

c.1154T>G

33 papers

NM_005097.4

p.E383A

c.1148A>C

1 paper

NM_005097.4

p.E383*

c.1147G>T

1 paper

NM_005097.4

p.Q392*

c.1174C>T

1 paper

NM_005097.4

p.Q392R

c.1175A>G

8 papers

NM_005097.4

p.T380A

c.1138A>G

1 paper

NM_005097.4

p.T396M

c.1187C>T

2 papers

NM_005097.4

p.Y377_D379del3

c.1129_1136del9

1 paper

NM_005097.4

p.A375A

c.1125G>A

1 paper

NM_005097.4

p.A375V

c.1124C>T

9 papers

NM_005097.4

p.L373S

c.1118T>C

2 papers

NM_005097.4

p.L373L

c.1117T>C