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

13 papers

NM_005097.4

p.R474*

c.1420C>T

Surrounding Variants

15 papers

NM_005097.4

p.R474Q

c.1421G>A

1 paper

NM_005097.4

p.R474L

c.1421G>T

22 papers

NM_005097.4

p.S473L

c.1418C>T

1 paper

NM_005097.4

p.Q488*

c.1462C>T

4 papers

NM_005097.4

p.M458L

c.1372A>C

1 paper

NM_005097.4

p.I491V

c.1471A>G

8 papers

NM_005097.4

p.G493R

c.1477G>A

7 papers

NM_005097.4

p.G493R

c.1477G>C

1 paper

NM_005097.4

p.I452T

c.1355T>C

1 paper

NM_005097.4

p.F498delFs

c.1494delT

1 paper

NM_005097.4

p.F498I

c.1492T>A

1 paper

NM_005097.4

p.W504R

c.1510T>A