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

2 papers

NM_018490.5

p.T327A

c.979A>G

Surrounding Variants

1 paper

NM_018490.5

p.I303V

c.907A>G

8 papers

NM_018490.5

p.G363C

c.1087G>T

1 paper

NM_018490.5

p.L284fs

c.850_851fs

1 paper

NM_018490.5

p.I277Splc

c.830+1G>A

1 paper

NM_018490.5

p.N258_S259insT

c.772_776ins3

1 paper

NM_018490.5

p.Q373K

c.1117C>A

1 paper

NM_018490.5

p.R374H

c.1121G>A

1 paper

NM_018490.5

p.Q379E

c.1135C>G

1 paper

NM_018490.5

p.E382fs

c.1144_1145fs

2 papers

NM_001346432.2

p.G363C

c.1087G>T

1 paper

NM_018490.5

p.E252A

c.755A>C

1 paper

NM_018490.5

p.E239*

c.715G>T