Varaico: Literature-Extracted Genetic Variants

Gene:LGR5
Variant:p.L335*

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.L335*
c.1004T>G
Surrounding Variants
1 paper
NM_003667.4
p.I340L
c.1018A>C
1 paper
NM_003667.4
p.S341L
c.1022C>T
1 paper
NM_003667.4
p.P344L
c.1031C>T
1 paper
NM_003667.4
p.Q345K
c.1033C>A
1 paper
NM_003667.4
p.C348G
c.1042T>G
2 papers
NM_003667.4
p.P352S
c.1054C>T
1 paper
NM_003667.4
p.L354_Q355ins6
c.1060_1064ins18
3 papers
NM_003667.4
p.Q355R
c.1064A>G
1 paper
NM_003667.4
p.L333Splc
c.998+4A>T
1 paper
NM_003667.4
p.E331G
c.992A>G
1 paper
NM_003667.4
p.T325S
c.973A>T
1 paper
NM_003667.4
p.L324I
c.970T>A
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