Varaico: Literature-Extracted Genetic Variants

RXFP2

165 papers

RefSeq Summary

This gene encodes a member of the GPCR (G protein-coupled, 7-transmembrane receptor) family. Mutations in this gene are associated with cryptorchidism. Alternatively spliced transcript variants encodi...

Pfam Domains

Ldl_recept_aaa 43–80UCSCLow-density lipoprotein receptor domain class A

LRR_8aa 137–197UCSCLeucine rich repeat

LRR_8aa 179–221UCSCLeucine rich repeat

LRR_8aa 281–341UCSCLeucine rich repeat

7tm_1aa 432–691UCSC7 transmembrane receptor (rhodopsin family)

Gene Aliases

HGNC Name

relaxin family peptide receptor 2

HGNC Previous Symbol

LGR8

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_130806.5

p.Q617insFs

c.1850dupA

Surrounding Variants

1 paper

NM_130806.5

p.Q617fs

c.1849_1850fs

1 paper

NM_130806.5

p.A620T

c.1858G>A

1 paper

NM_130806.5

p.F613fs

c.1837_1838fs

1 paper

NM_130806.5

p.F613delFs

c.1837delT

1 paper

NM_130806.5

p.Y609C

c.1826A>G

7 papers

NM_130806.5

p.I604V

c.1810A>G

1 paper

NM_130806.5

p.P653S

c.1957C>T

1 paper

NM_130806.5

p.V665L

c.1993G>C

1 paper

NM_130806.5

p.V665L

c.1993G>T

1 paper

NM_130806.5

p.D669N

c.2005G>A

1 paper

NM_130806.5

p.G596A

c.1787G>C

1 paper

NM_130806.5

p.Y589delFs

c.1765delT