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.R135H

c.404G>A

Surrounding Variants

1 paper

NM_018490.5

p.R135S

c.403C>A

1 paper

NM_018490.5

p.D137A

c.410A>C

2 papers

NM_018490.5

p.R156Q

c.467G>A

1 paper

NM_018490.5

p.W159*

c.476G>A

1 paper

NM_018490.5

p.W159*

c.477G>A

2 papers

NM_018490.5

p.S191S

c.573C>T

1 paper

NM_018490.5

p.V205D

c.614T>A

2 papers

NM_018490.5

p.L206Splc

c.618-1G>C

1 paper

NM_018490.5

p.H207N

c.619C>A

1 paper

NM_018490.5

p.L206_R214del0

c.618_641del24

1 paper

NM_018490.5

p.T229A

c.685A>G

1 paper

NM_018490.5

p.E239*

c.715G>T