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

2 papers

NM_014813.3

p.W453*

c.1358G>A

Surrounding Variants

2 papers

NM_014813.3

p.W453*

c.1359G>A

1 paper

NM_014813.3

p.W453_L454delFs

c.1358_1361del4

1 paper

NM_014813.3

p.L455I

c.1363C>A

1 paper

NM_014813.3

p.L458_D460delFs

c.1374_1378del5

2 papers

NM_014813.3

p.V459fs

c.1375_1376fs

1 paper

NM_014813.3

p.D460_N461del2

c.1378_1382del6

1 paper

NM_014813.3

p.L446P

c.1337T>C

2 papers

NM_014813.3

p.P474R

c.1421C>G

1 paper

NM_001312686.2

p.A375_G376delFs

c.1123_1126del4

1 paper

NM_014813.3

p.D489Y

c.1465G>T

1 paper

NM_001312686.2

p.D390G

c.1169A>G

1 paper

NM_014813.3

p.L496V

c.1486C>G