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_014813.3

p.I753T

c.2258T>C

Surrounding Variants

1 paper

NM_014813.3

p.A761_K763del3

c.2281_2288del9

1 paper

NM_014813.3

p.T765I

c.2294C>T

1 paper

NM_014813.3

p.R741*

c.2221C>T

2 papers

NM_014813.3

p.D733Y

c.2197G>T

1 paper

NM_014813.3

p.P723T

c.2167C>A

1 paper

NM_014813.3

p.P723_A724insGGA

c.2167_2171ins9

1 paper

NM_014813.3

p.L715S

c.2144T>C

2 papers

NM_014813.3

p.A713V

c.2138C>T

3 papers

NM_014813.3

p.R709*

c.2125C>T

1 paper

NM_014813.3

p.T708T

c.2124A>C

NM_001312686.2

p.T605T

c.1815A>C

2 papers

NM_014813.3

p.E799*

c.2395G>T

2 papers

NM_014813.3

p.V806A

c.2417T>C