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.L451*

c.1352T>G

Surrounding Variants

1 paper

NM_018490.5

p.L451*

c.1352T>A

1 paper

NM_018490.5

p.F445V

c.1333T>G

1 paper

NM_018490.5

p.T430M

c.1289C>T

1 paper

NM_018490.5

p.S421G

c.1261A>G

1 paper

NM_018490.5

p.N417N

c.1251C>T

1 paper

NM_018490.5

p.D395H

c.1183G>C

1 paper

NM_018490.5

p.Y468S

c.1403A>C

1 paper

NM_018490.5

p.Q496H

c.1488G>T

1 paper

NM_018490.5

p.Q496H

c.1488G>C

2 papers

NM_001346432.2

p.G363C

c.1087G>T

1 paper

NM_018490.5

p.E382fs

c.1144_1145fs

1 paper

NM_018490.5

p.Q379E

c.1135C>G