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

21 papers

NM_005097.4

p.R136W

c.406C>T

Surrounding Variants

2 papers

NM_005097.4

p.R136Q

c.407G>A

1 paper

NM_005097.4

p.G137R

c.409G>A

1 paper

NM_005097.4

p.G137R

c.409G>C

1 paper

NM_005097.4

p.T134fs

c.400_401fs

1 paper

NM_005097.4

p.H133Q

c.399T>A

1 paper

NM_005097.4

p.H133Q

c.399T>G

1 paper

NM_005097.4

p.I130delFs

c.388delA

1 paper

NM_005097.4

p.H143R

c.428A>G

1 paper

NM_005097.4

p.K128E

c.382A>G

1 paper

NM_005097.4

p.L144S

c.431T>C

9 papers

NM_005097.4

p.L144Splc

c.431+1G>A

6 papers

NM_005097.4

p.I127N

c.380T>A