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.Y389S

c.1166A>C

Surrounding Variants

1 paper

NM_130806.5

p.I382Splc

c.1146-62A>G

1 paper

NM_130806.5

p.I420L

c.1258A>C

1 paper

NM_130806.5

p.I420L

c.1258A>T

1 paper

NM_130806.5

p.A426D

c.1277C>A

1 paper

NM_130806.5

p.A451T

c.1351G>A

1 paper

NM_130806.5

p.C459F

c.1376G>T

2 papers

NM_130806.5

p.C459Splc

c.1376-12A>G

2 papers

NM_130806.5

p.F469delFs

c.1406delT

3 papers

NM_130806.5

p.F469fs

c.1405_1406fs

1 paper

NM_130806.5

p.K477N

c.1431A>C

1 paper

NM_130806.5

p.K477N

c.1431A>T

1 paper

NM_130806.5

p.Q481R

c.1442A>G