Varaico: Literature-Extracted Genetic Variants

LRIG2

88 papers

RefSeq Summary

This gene encodes a transmembrane protein containing leucine-rich repeats and immunoglobulin-like domains. The encoded protein promotes epidermal growth factor signalling, resulting in increased proli...

Pfam Domains

LRR_8aa 144–195UCSCLeucine rich repeat

LRR_8aa 240–299UCSCLeucine rich repeat

LRR_8aa 289–347UCSCLeucine rich repeat

LRR_8aa 311–371UCSCLeucine rich repeat

LRR_8aa 386–445UCSCLeucine rich repeat

Gene Aliases

HGNC Name

leucine rich repeats and immunoglobulin like domains 2

HGNC Alias Symbol

KIAA0806

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001312686.2

p.S54L

c.161C>T

Surrounding Variants

1 paper

NM_001312686.2

p.N51insFs

c.152_153insC

1 paper

NM_014813.3

p.N154delFs

c.460_461delAA

1 paper

NM_014813.3

p.R166C

c.496C>T

1 paper

NM_014813.3

p.Q168delFs

c.504delG

1 paper

NM_014813.3

p.L146R

c.437T>G

1 paper

NM_001312686.2

p.A42A

c.126T>A

2 papers

NM_014813.3

p.Y143*

c.429C>A

2 papers

NM_014813.3

p.Y143*

c.429C>G

1 paper

NM_014813.3

p.Y171Y

c.513C>T

1 paper

NM_001312686.2

p.A36A

c.108A>G

1 paper

NM_001312686.2

p.N33K

c.99T>A

1 paper

NM_001312686.2

p.N33insFs

c.98_99insG