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

2 papers

NM_000233.4

p.L480S

c.1439T>C

Surrounding Variants

1 paper

NM_000233.4

p.R481G

c.1441A>G

5 papers

NM_000233.4

p.R479*

c.1435C>T

6 papers

NM_000233.4

p.A483D

c.1448C>A

1 paper

NM_000233.4

p.D475A

c.1424A>C

5 papers

NM_000233.4

p.I486F

c.1456A>T

2 papers

NM_000233.4

p.I486M

c.1458T>G

11 papers

NM_000233.4

p.W491*

c.1472G>A

1 paper

NM_000233.4

p.T469ins2

c.1406_1407ins6

1 paper

NM_000233.4

p.W491C

c.1473G>T

1 paper

NM_000233.4

p.W491C

c.1473G>C

11 papers

NM_000233.4

p.W491*

c.1473G>A

1 paper

NM_000233.4

p.T469A

c.1405A>G