Varaico: Literature-Extracted Genetic Variants

Gene:LHCGR
Variant:p.L457R

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
32 papers
NM_000233.4
p.L457R
c.1370T>G
Surrounding Variants
1 paper
NM_000233.4
p.L457H
c.1370T>A
1 paper
NM_000233.4
p.T458A
c.1372A>G
1 paper
NM_000233.4
p.V459A
c.1376T>C
1 paper
NM_000233.4
p.V454G
c.1361T>G
1 paper
NM_000233.4
p.V454A
c.1361T>C
1 paper
NM_000233.4
p.V454F
c.1360G>T
1 paper
NM_000233.4
p.V454I
c.1360G>A
3 papers
NM_000233.4
p.T461A
c.1381A>G
6 papers
NM_000233.4
p.T461I
c.1382C>T
1 paper
NM_000233.4
p.E463K
c.1387G>A
1 paper
NM_000233.4
p.E463A
c.1388A>C
1 paper
NM_000233.4
p.E451A
c.1352A>C
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