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.W896*

c.2688G>A

Surrounding Variants

1 paper

NM_018490.5

p.W896L

c.2687G>T

1 paper

NM_018490.5

p.W896*

c.2687G>A

1 paper

NM_018490.5

p.T901fs

c.2701_2702fs

1 paper

NM_018490.5

p.T901delFs

c.2701delT

1 paper

NM_018490.5

p.S903L

c.2708C>T

1 paper

NM_018490.5

p.S903S

c.2709G>T

1 paper

NM_018490.5

p.C889F

c.2666G>T

1 paper

NM_018490.5

p.A904P

c.2710G>C

1 paper

NM_018490.5

p.P882A

c.2644C>G

1 paper

NM_018490.5

p.C881F

c.2642G>T

1 paper

NM_018490.5

p.S914Y

c.2741C>A

1 paper

NM_018490.5

p.K877delFs

c.2629delT