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.K109fs

c.325_326fs

Surrounding Variants

1 paper

NM_130806.5

p.P112T

c.334C>A

1 paper

NM_130806.5

p.D128Y

c.382G>T

1 paper

NM_130806.5

p.S151C

c.451A>T

1 paper

NM_130806.5

p.K165N

c.495G>C

1 paper

NM_130806.5

p.K165N

c.495G>T

1 paper

NM_130806.5

p.A101S

c.301G>T

1 paper

NM_130806.5

p.G81D

c.242G>A

2 papers

NM_130806.5

p.E77K

c.229G>A

1 paper

NM_130806.5

p.A75V

c.224C>T

1 paper

NM_130806.5

p.G74W

c.220G>T

1 paper

NM_130806.5

p.G72E

c.215G>A

2 papers

NM_130806.5

p.C71Y

c.212G>A