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

17 papers

NM_005097.4

p.S145R

c.435C>G

Surrounding Variants

13 papers

NM_005097.4

p.S145R

c.435C>A

1 paper

NM_005097.4

p.L146_A147insFs

c.438_439ins11

1 paper

NM_005097.4

p.L146F

c.436C>T

13 papers

NM_005097.4

p.S145R

c.433A>C

1 paper

NM_005097.4

p.A147S

c.439G>T

1 paper

NM_005097.4

p.A147fs

c.439_440fs

1 paper

NM_005097.4

p.L144Splc

c.432-2A>T

1 paper

NM_005097.4

p.T153I

c.458C>T

13 papers

NM_005097.4

p.L154P

c.461T>C

1 paper

NM_005097.4

p.V168Splc

c.504-1G>A

1 paper

NM_005097.4

p.N176del1

c.526_527delAAT

1 paper

NM_005097.4

p.D178N

c.532G>A