Varaico: Literature-Extracted Genetic Variants

Gene:LHCGR
Variant:p.D564E

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.D564E
c.1692T>A
Surrounding Variants
1 paper
NM_000233.4
p.D564E
c.1692T>G
37 papers
NM_000233.4
p.D564G
c.1691A>G
2 papers
NM_000233.4
p.D564A
c.1691A>C
5 papers
NM_000233.4
p.D564N
c.1690G>A
1 paper
NM_000233.4
p.A568P
c.1702G>C
33 papers
NM_000233.4
p.A568V
c.1703C>T
1 paper
NM_000233.4
p.T561A
c.1681A>G
2 papers
NM_000233.4
p.A568A
c.1704T>A
1 paper
NM_000233.4
p.K569N
c.1707G>T
1 paper
NM_000233.4
p.K569N
c.1707G>C
1 paper
NM_000233.4
p.M559V
c.1675A>G
1 paper
NM_000233.4
p.K570N
c.1710A>T
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