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.N306K

c.918T>G

Surrounding Variants

1 paper

NM_130806.5

p.N306K

c.918T>A

1 paper

NM_130806.5

p.S303L

c.908C>T

1 paper

NM_130806.5

p.L283P

c.848T>C

1 paper

NM_130806.5

p.L283F

c.847C>T

1 paper

NM_130806.5

p.L278L

c.832C>T

1 paper

NM_130806.5

p.Y271*

c.813T>A

1 paper

NM_130806.5

p.Y271*

c.813T>G

1 paper

NM_130806.5

p.R268*

c.802A>T

1 paper

NM_130806.5

p.S314C

c.940A>T

4 papers

NM_130806.5

p.E319E

c.957A>G

1 paper

NM_130806.5

p.S321S

c.963A>G

3 papers

NM_130806.5

p.L331L

c.993A>G