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

1 paper

NM_021634.4

p.Y180C

c.539A>G

Surrounding Variants

1 paper

NM_021634.4

p.P191L

c.572C>T

1 paper

NM_021634.4

p.F218I

c.652T>A

1 paper

NM_021634.4

p.Y219N

c.655T>A

2 papers

NM_021634.4

p.S223Y

c.668C>A

1 paper

NM_021634.4

p.K178fs

c.532_533fs

2 papers

NM_021634.4

p.K178delFs

c.532delA

1 paper

NM_021634.4

p.G172A

c.515G>C

1 paper

NM_021634.4

p.S166T

c.496T>A

1 paper

NM_021634.4

p.N160I

c.479A>T

1 paper

NM_021634.4

p.L155Splc

c.465-23C>T

1 paper

NM_021634.4

p.T235I

c.704C>T

1 paper

NM_021634.4

p.L252L

c.754C>T