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.H527delFs

c.1580_1581delAT

Surrounding Variants

1 paper

NM_005097.4

p.H527fs

c.1579_1580fs

2 papers

NM_005097.4

p.H527R

c.1580A>G

1 paper

NM_005097.4

p.S524P

c.1570T>C

1 paper

NM_005097.4

p.N531D

c.1591A>G

1 paper

NM_005097.4

p.N534I

c.1601A>T

1 paper

NM_005097.4

p.K510*

c.1528A>T

2 papers

NM_005097.4

p.Q546delFs

c.1636_1637delCA

1 paper

NM_005097.4

p.K508N

c.1524A>C

1 paper

NM_005097.4

p.K508N

c.1524A>T

7 papers

NM_005097.4

p.I547insFs

c.1639_1640insA

3 papers

NM_005097.4

p.I547insFs

c.1640_1641insA

1 paper

NM_005097.4

p.A506T

c.1516G>A