Varaico: Literature-Extracted Genetic Variants

RXFP1

60 papers

RefSeq Summary

This gene encodes a member of the leucine-rich repeat-containing subgroup of the G protein-coupled 7-transmembrane receptor superfamily. The encoded protein plays a critical role in sperm motility, pr...

Pfam Domains

LRR_8aa 24–78UCSCLeucine rich repeat

Ldl_recept_aaa 25–62UCSCLow-density lipoprotein receptor domain class A

LRR_8aa 153–213UCSCLeucine rich repeat

LRR_8aa 201–261UCSCLeucine rich repeat

LRR_8aa 274–334UCSCLeucine rich repeat

LRR_8aa 322–382UCSCLeucine rich repeat

Gene Aliases

HGNC Name

relaxin family peptide receptor 1

HGNC Previous Symbol

LGR7

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_021634.4

p.D52N

c.154G>A

Surrounding Variants

1 paper

NM_021634.4

p.D51A

c.152A>C

1 paper

NM_021634.4

p.V50V

c.150G>T

1 paper

NM_021634.4

p.Q56delFs

c.168delG

1 paper

NM_021634.4

p.D58N

c.172G>A

1 paper

NM_021634.4

p.D58A

c.173A>C

2 papers

NM_021634.4

p.D58E

c.174T>A

2 papers

NM_021634.4

p.D58E

c.174T>G

1 paper

NM_021634.4

p.G63E

c.188G>A

1 paper

NM_021634.4

p.F32C

c.95T>G

1 paper

NM_021634.4

p.C27F

c.80G>T

2 papers

NM_021634.4

p.S18Y

c.53C>A