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.K477N

c.1431A>C

Surrounding Variants

1 paper

NM_130806.5

p.K477N

c.1431A>T

1 paper

NM_130806.5

p.Q481R

c.1442A>G

3 papers

NM_130806.5

p.F469fs

c.1405_1406fs

2 papers

NM_130806.5

p.F469delFs

c.1406delT

2 papers

NM_130806.5

p.W489*

c.1466G>A

2 papers

NM_130806.5

p.W489*

c.1467G>A

1 paper

NM_130806.5

p.R496C

c.1486C>T

4 papers

NM_130806.5

p.G499E

c.1496G>A

2 papers

NM_130806.5

p.C459Splc

c.1376-12A>G

1 paper

NM_130806.5

p.P527H

c.1580C>A

4 papers

NM_001166058.2

p.R508G

c.1522C>G

NM_130806.5

p.R532G

c.1594C>G

1 paper

NM_130806.5

p.R532Q

c.1595G>A