Varaico: Literature-Extracted Genetic Variants

LGR5

146 papers

RefSeq Summary

The protein encoded by this gene is a leucine-rich repeat-containing receptor (LGR) and member of the G protein-coupled, 7-transmembrane receptor (GPCR) superfamily. The encoded protein is a receptor ...

Pfam Domains

LRRNTaa 33–65UCSCLeucine rich repeat N-terminal domain

LRR_8aa 90–150UCSCLeucine rich repeat

LRR_4aa 210–256UCSCLeucine Rich repeats (2 copies)

LRR_8aa 328–386UCSCLeucine rich repeat

LRR_8aa 374–434UCSCLeucine rich repeat

Gene Aliases

HGNC Name

leucine rich repeat containing G protein-coupled receptor 5

HGNC Previous Symbols

GPR67; GPR49

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_003667.4

p.H39delFs

c.115delC

Surrounding Variants

1 paper

NM_003667.4

p.C38Y

c.113G>A

1 paper

NM_003667.4

p.E41ins0

c.121_123dupGAG

1 paper

NM_003667.4

p.C34Y

c.101G>A

1 paper

NM_003667.4

p.D43N

c.127G>A

1 paper

NM_003667.4

p.C34R

c.100T>C

1 paper

NM_003667.4

p.M46V

c.136A>G

1 paper

NM_003667.4

p.M46L

c.136A>T

1 paper

NM_003667.4

p.M46delFs

c.138delG

1 paper

NM_003667.4

p.L30*

c.89T>A

1 paper

NM_003667.4

p.L30S

c.89T>C

1 paper

NM_003667.4

p.L47insFs

c.139_140ins4

2 papers

NM_003667.4

p.L30M

c.88T>A