Varaico: Literature-Extracted Genetic Variants

LHCGR

759 papers

RefSeq Summary

This gene encodes the receptor for both luteinizing hormone and choriogonadotropin. This receptor belongs to the G-protein coupled receptor 1 family, and its activity is mediated by G proteins which a...

Pfam Domains

LRR_5aa 50–151UCSCBspA type Leucine rich repeat region (6 copies)

LRR_5aa 142–269UCSCBspA type Leucine rich repeat region (6 copies)

7tm_1aa 376–623UCSC7 transmembrane receptor (rhodopsin family)

Gene Aliases

HGNC Name

luteinizing hormone/choriogonadotropin receptor

HGNC Previous Symbol

HHG

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000233.4

p.C514R

c.1540T>C

Surrounding Variants

2 papers

NM_000233.4

p.C514S

c.1540T>A

2 papers

NM_000233.4

p.C514S

c.1541G>C

1 paper

NM_000233.4

p.P516L

c.1547C>T

1 paper

NM_000233.4

p.V519A

c.1556T>C

1 paper

NM_000233.4

p.T521A

c.1561A>G

1 paper

NM_000233.4

p.G504R

c.1510G>C

2 papers

NM_000233.4

p.G504S

c.1510G>A

1 paper

NM_000233.4

p.S524L

c.1571C>T

6 papers

NM_000233.4

p.Q525*

c.1573C>T

16 papers

NM_000233.4

p.L502P

c.1505T>C

1 paper

NM_000233.4

p.V526G

c.1577T>G

1 paper

NM_000233.4

p.I528L

c.1582A>T