Varaico: Literature-Extracted Genetic Variants

Gene:LGR5
Variant:p.Q457H

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.Q457H
c.1371G>T
Surrounding Variants
2 papers
NM_003667.4
p.Q457H
c.1371G>C
1 paper
NM_003667.4
p.S458R
c.1372A>C
1 paper
NM_003667.4
p.S458R
c.1374C>A
1 paper
NM_003667.4
p.S458R
c.1374C>G
1 paper
NM_003667.4
p.S461P
c.1381T>C
1 paper
NM_003667.4
p.L450*
c.1349T>A
1 paper
NM_003667.4
p.L450*
c.1349T>G
1 paper
NM_003667.4
p.L450delFs
c.1349delT
1 paper
NM_003667.4
p.H443delFs
c.1327delC
2 papers
NM_003667.4
p.S435L
c.1304C>T
1 paper
NM_003667.4
p.N432_L434del3
c.1294_1301del9
2 papers
NM_003667.4
p.D428N
c.1282G>A
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