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

1–12 of 114 variants

20 papers

NM_018490.5

p.R126*

c.376C>T

10 papers

NM_018490.5

p.D844G

c.2531A>G

8 papers

NM_018490.5

p.G363C

c.1087G>T

6 papers

NM_018490.5

p.I96V

c.286A>G

6 papers

NM_018490.5

p.A750T

c.2248G>A

4 papers

NM_018490.5

p.T755I

c.2264C>T

3 papers

NM_018490.5

p.T709M

c.2126C>T

2 papers

NM_018490.5

p.V109V

c.327T>A

2 papers

NM_018490.5

p.R156Q

c.467G>A

2 papers

NM_018490.5

p.S191S

c.573C>T

2 papers

NM_018490.5

p.L206Splc

c.618-1G>C

2 papers

NM_018490.5

p.T327A

c.979A>G