Varaico: Literature-Extracted Genetic Variants

LGR4

116 papers

RefSeq Summary

The protein encoded by this gene is a G-protein coupled receptor that binds R-spondins and activates the Wnt signaling pathway. This Wnt signaling pathway activation is necessary for proper developmen...

Pfam Domains

LRRNTaa 29–56UCSCLeucine rich repeat N-terminal domain

LRR_8aa 59–117UCSCLeucine rich repeat

LRR_8aa 105–165UCSCLeucine rich repeat

LRR_8aa 177–237UCSCLeucine rich repeat

LRR_8aa 248–307UCSCLeucine rich repeat

LRR_8aa 319–377UCSCLeucine rich repeat

Gene Aliases

HGNC Name

leucine rich repeat containing G protein-coupled receptor 4

HGNC Previous Symbol

GPR48

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_018490.5

p.K822E

c.2464A>G

Surrounding Variants

1 paper

NM_018490.5

p.R818C

c.2452C>T

1 paper

NM_018490.5

p.R817*

c.2449C>T

1 paper

NM_018490.5

p.S832R

c.2494A>C

1 paper

NM_018490.5

p.S832R

c.2496C>G

1 paper

NM_018490.5

p.S832fs

c.2494_2495fs

1 paper

NM_018490.5

p.S832R

c.2496C>A

10 papers

NM_018490.5

p.D844G

c.2531A>G

NM_001346432.2

p.D820G

c.2459A>G

1 paper

NM_018490.5

p.P793L

c.2378C>T

1 paper

NM_018490.5

p.L792F

c.2376G>T

1 paper

NM_018490.5

p.L792F

c.2376G>C

2 papers

NM_018490.5

p.P791Q

c.2372C>A

1 paper

NM_018490.5

p.P791T

c.2371C>A