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

3 papers

NM_014813.3

p.V543M

c.1627G>A

Surrounding Variants

1 paper

NM_014813.3

p.S537T

c.1610G>C

3 papers

NM_014813.3

p.R550C

c.1648C>T

1 paper

NM_014813.3

p.Q553*

c.1657C>T

1 paper

NM_001312686.2

p.G453_E454delFs

c.1358_1361del4

1 paper

NM_001312686.2

p.S424P

c.1270T>C

1 paper

NM_014813.3

p.D526H

c.1576G>C

1 paper

NM_014813.3

p.T518R

c.1553C>G

1 paper

NM_014813.3

p.G512D

c.1535G>A

1 paper

NM_014813.3

p.I581T

c.1742T>C

1 paper

NM_014813.3

p.N584D

c.1750A>G

1 paper

NM_014813.3

p.L496V

c.1486C>G

1 paper

NM_014813.3

p.S591Y

c.1772C>A