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.F564L

c.1692T>A

Surrounding Variants

1 paper

NM_018490.5

p.F564L

c.1692T>G

1 paper

NM_018490.5

p.F564L

c.1690T>C

1 paper

NM_018490.5

p.N556S

c.1667A>G

1 paper

NM_018490.5

p.F529L

c.1587T>G

1 paper

NM_018490.5

p.F529L

c.1587T>A

1 paper

NM_018490.5

p.F529L

c.1585T>C

1 paper

NM_018490.5

p.F623V

c.1867T>G

1 paper

NM_018490.5

p.A647V

c.1940C>T

3 papers

NM_018490.5

p.T709M

c.2126C>T

1 paper

NM_018490.5

p.A722A

c.2166C>T

1 paper

NM_018490.5

p.I724F

c.2170A>T

1 paper

NM_018490.5

p.K727K

c.2181A>G