Varaico: Literature-Extracted Genetic Variants

Gene:LGR5
Variant:p.V484L

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
3 papers
NM_003667.4
p.V484L
c.1450G>C
Surrounding Variants
1 paper
NM_003667.4
p.G483E
c.1448G>A
1 paper
NM_003667.4
p.A481_S492del12
c.1441_1475del36
1 paper
NM_003667.4
p.K490N
c.1470G>C
1 paper
NM_003667.4
p.K490N
c.1470G>T
1 paper
NM_003667.4
p.S492insFs
c.1476dupT
1 paper
NM_003667.4
p.D504E
c.1512C>A
1 paper
NM_003667.4
p.D504E
c.1512C>G
1 paper
NM_003667.4
p.G512R
c.1534G>A
1 paper
NM_003667.4
p.G512R
c.1534G>C
1 paper
NM_003667.4
p.S461P
c.1381T>C
1 paper
NM_003667.4
p.S458R
c.1374C>A
1 paper
NM_003667.4
p.S458R
c.1374C>G
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