Varaico: Literature-Extracted Genetic Variants

Gene:LGR5
Variant:p.Y748D

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
1 paper
NM_003667.4
p.Y748D
c.2242T>G
Surrounding Variants
1 paper
NM_003667.4
p.G754_L756delFs
c.2262_2268del7
1 paper
NM_003667.4
p.M739_M740ins6
c.2215_2219ins18
1 paper
NM_003667.4
p.E757G
c.2270A>G
1 paper
NM_003667.4
p.H767H
c.2301C>T
1 paper
NM_003667.4
p.P720L
c.2159C>T
4 papers
NM_003667.4
p.P781A
c.2341C>G
1 paper
NM_003667.4
p.P714_L715insCA
c.2140_2144ins6
2 papers
NM_003667.4
p.C712F
c.2135G>T
1 paper
NM_003667.4
p.P710T
c.2128C>A
1 paper
NM_003667.4
p.L790I
c.2368T>A
1 paper
NM_003667.4
p.A697T
c.2089G>A
1 paper
NM_003667.4
p.E799D
c.2397A>C
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