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

4 papers

NM_000233.4

p.L608_V609del0

c.1822_1827del6

Surrounding Variants

1 paper

NM_000233.4

p.F611V

c.1831T>G

9 papers

NM_000233.4

p.Y612*

c.1836T>G

9 papers

NM_000233.4

p.Y612*

c.1836T>A

1 paper

NM_000233.4

p.L607V

c.1819T>G

1 paper

NM_000233.4

p.V606fs

c.1816_1817fs

1 paper

NM_000233.4

p.K605N

c.1815A>T

1 paper

NM_000233.4

p.K605N

c.1815A>C

1 paper

NM_000233.4

p.S616T

c.1846T>A

48 papers

NM_000233.4

p.S616Y

c.1847C>A

1 paper

NM_000233.4

p.K605E

c.1813A>G

3 papers

NM_000233.4

p.C617fs

c.1849_1850fs

1 paper

NM_000233.4

p.S604C

c.1811C>G