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

1–12 of 167 variants

3 papers

NM_014813.3

p.G7A

c.20G>C

3 papers

NM_014813.3

p.E410delFs

c.1230delA

3 papers

NM_014813.3

p.V543M

c.1627G>A

3 papers

NM_014813.3

p.R550C

c.1648C>T

3 papers

NM_014813.3

p.R709*

c.2125C>T

3 papers

NM_014813.3

p.I852F

c.2554A>T

2 papers

NM_014813.3

p.C56delFs

c.167delG

2 papers

NM_014813.3

p.Y143*

c.429C>A

2 papers

NM_014813.3

p.Y143*

c.429C>G

2 papers

NM_014813.3

p.Q397H

c.1191G>C

2 papers

NM_014813.3

p.Q397H

c.1191G>T

2 papers

NM_014813.3

p.W453*

c.1358G>A