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

1–12 of 103 variants

42 papers

NM_130806.5

p.T222P

c.664A>C

7 papers

NM_130806.5

p.I604V

c.1810A>G

4 papers

NM_130806.5

p.R223K

c.668G>A

4 papers

NM_130806.5

p.E319E

c.957A>G

4 papers

NM_130806.5

p.G499E

c.1496G>A

3 papers

NM_130806.5

p.N260S

c.779A>G

3 papers

NM_130806.5

p.L331L

c.993A>G

3 papers

NM_130806.5

p.N339D

c.1015A>G

3 papers

NM_130806.5

p.F469fs

c.1405_1406fs

3 papers

NM_130806.5

p.R532G

c.1594C>G

2 papers

NM_130806.5

p.A62T

c.184G>A

2 papers

NM_130806.5

p.D70Y

c.208G>T