Varaico: Literature-Extracted Genetic Variants

Gene:LHCGR
Variant:p.S616T

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.S616T
c.1846T>A
Surrounding Variants
48 papers
NM_000233.4
p.S616Y
c.1847C>A
3 papers
NM_000233.4
p.C617fs
c.1849_1850fs
1 paper
NM_000233.4
p.C617F
c.1850G>T
4 papers
NM_000233.4
p.C617Y
c.1850G>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.A618T
c.1852G>A
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.P620S
c.1858C>T
1 paper
NM_000233.4
p.F611V
c.1831T>G
4 papers
NM_000233.4
p.L608_V609del0
c.1822_1827del6
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