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.S767insFs

c.2299dupT

Surrounding Variants

1 paper

NM_018490.5

p.S767fs

c.2299_2300fs

1 paper

NM_018490.5

p.S776C

c.2327C>G

4 papers

NM_018490.5

p.T755I

c.2264C>T

1 paper

NM_018490.5

p.E780G

c.2339A>G

1 paper

NM_018490.5

p.A750V

c.2249C>T

6 papers

NM_018490.5

p.A750T

c.2248G>A

1 paper

NM_018490.5

p.V749A

c.2246T>C

1 paper

NM_018490.5

p.L787V

c.2359C>G

1 paper

NM_018490.5

p.P791T

c.2371C>A

2 papers

NM_018490.5

p.P791Q

c.2372C>A

1 paper

NM_018490.5

p.L792F

c.2376G>T

1 paper

NM_018490.5

p.L792F

c.2376G>C