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

20 papers

NM_018490.5

p.R126*

c.376C>T

Surrounding Variants

2 papers

NM_018490.5

p.V109V

c.327T>A

1 paper

NM_018490.5

p.G103E

c.308G>A

6 papers

NM_018490.5

p.I96V

c.286A>G

1 paper

NM_018490.5

p.D92N

c.274G>A

1 paper

NM_018490.5

p.L86_Q87insFs

c.258_259insT

1 paper

NM_018490.5

p.R135S

c.403C>A

1 paper

NM_018490.5

p.R135H

c.404G>A

1 paper

NM_018490.5

p.D137A

c.410A>C

2 papers

NM_018490.5

p.R156Q

c.467G>A

1 paper

NM_018490.5

p.W159*

c.476G>A

1 paper

NM_018490.5

p.W159*

c.477G>A

2 papers

NM_018490.5

p.S191S

c.573C>T