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.I375_E376delFs

c.1123_1126del4

Surrounding Variants

1 paper

NM_014813.3

p.W373C

c.1119G>C

1 paper

NM_014813.3

p.W373C

c.1119G>T

1 paper

NM_014813.3

p.S372S

c.1116A>C

1 paper

NM_014813.3

p.S372*

c.1115C>A

1 paper

NM_014813.3

p.S372*

c.1115C>G

1 paper

NM_001312686.2

p.S269P

c.805T>C

1 paper

NM_014813.3

p.L391Splc

c.1172+6T>C

1 paper

NM_014813.3

p.G395E

c.1184G>A

2 papers

NM_014813.3

p.Q397H

c.1191G>C

2 papers

NM_014813.3

p.Q397H

c.1191G>T

3 papers

NM_014813.3

p.E410delFs

c.1230delA

1 paper

NM_014813.3

p.E410fs

c.1228_1229fs