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.W66C

c.198G>C

Surrounding Variants

1 paper

NM_014813.3

p.W66C

c.198G>T

1 paper

NM_014813.3

p.A68A

c.204G>A

1 paper

NM_014813.3

p.P75delFs

c.225delC

1 paper

NM_014813.3

p.D76fs

c.226_227fs

1 paper

NM_014813.3

p.T77S

c.229A>T

1 paper

NM_014813.3

p.T77S

c.230C>G

2 papers

NM_014813.3

p.C56delFs

c.167delG

1 paper

NM_014813.3

p.I51insFs

c.152_153insC

1 paper

NM_014813.3

p.C43fs

c.127_128fs

1 paper

NM_014813.3

p.L42P

c.125T>C

1 paper

NM_014813.3

p.G39E

c.116G>A

1 paper

NM_014813.3

p.A38D

c.113C>A