Varaico: Literature-Extracted Genetic Variants

Gene:LGR5
Variant:p.H383R

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_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
2 papers
NM_003667.4
p.H383R
c.1148A>G
Surrounding Variants
1 paper
NM_003667.4
p.Y387ins1
c.1160_1161insTTT
1 paper
NM_003667.4
p.E388K
c.1162G>A
1 paper
NM_003667.4
p.K390I
c.1169A>T
1 paper
NM_003667.4
p.L400V
c.1198C>G
1 paper
NM_003667.4
p.L400F
c.1198C>T
1 paper
NM_003667.4
p.S402L
c.1205C>T
1 paper
NM_003667.4
p.L403L
c.1207C>T
1 paper
NM_003667.4
p.K378R
c.1133A>G
1 paper
NM_003667.4
p.L376F
c.1126C>T
1 paper
NM_003667.4
p.C373delFs
c.1117_1118delTG
1 paper
NM_003667.4
p.S360delFs
c.1080delT
1 paper
NM_003667.4
p.L359R
c.1076T>G
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