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.L622V

c.1864C>G

Surrounding Variants

2 papers

NM_000233.4

p.Y623S

c.1868A>C

1 paper

NM_000233.4

p.Y623*

c.1869T>G

1 paper

NM_000233.4

p.Y623*

c.1869T>A

1 paper

NM_000233.4

p.P620S

c.1858C>T

1 paper

NM_000233.4

p.I625L

c.1873A>T

1 paper

NM_000233.4

p.I625L

c.1873A>C

21 papers

NM_000233.4

p.I625K

c.1874T>A

1 paper

NM_000233.4

p.A618T

c.1852G>A

1 paper

NM_000233.4

p.C617fs

c.1849_1850fs

3 papers

NM_000233.4

p.C617delFs

c.1850delC

1 paper

NM_000233.4

p.C617F

c.1850G>T

4 papers

NM_000233.4

p.C617Y

c.1850G>A