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.L214Splc

c.641+5G>A

Surrounding Variants

1 paper

NM_130806.5

p.Q210*

c.628C>T

1 paper

NM_130806.5

p.H194R

c.581A>G

42 papers

NM_130806.5

p.T222P

c.664A>C

1 paper

NM_130806.5

p.T222A

c.664A>G

1 paper

NM_130806.5

p.T222S

c.664A>T

1 paper

NM_130806.5

p.T222S

c.665C>G

4 papers

NM_130806.5

p.R223K

c.668G>A

1 paper

NM_130806.5

p.L238Splc

c.713+1G>A

1 paper

NM_130806.5

p.Q258H

c.774A>C

1 paper

NM_130806.5

p.Q258H

c.774A>T

3 papers

NM_130806.5

p.N260S

c.779A>G

1 paper

NM_130806.5

p.R268*

c.802A>T