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.Q303P

c.908A>C

Surrounding Variants

6 papers

NM_000233.4

p.Q303*

c.907C>T

1 paper

NM_000233.4

p.C304Y

c.911G>A

1 paper

NM_000233.4

p.E305G

c.914A>G

12 papers

NM_000233.4

p.T307A

c.919A>G

1 paper

NM_000233.4

p.T307del1

c.919_921delTGT

4 papers

NM_000233.4

p.E298K

c.892G>A

1 paper

NM_000233.4

p.R309T

c.926G>C

1 paper

NM_000233.4

p.R309insFs

c.926dupG

1 paper

NM_000233.4

p.I296T

c.887T>C

2 papers

NM_000233.4

p.S295P

c.883T>C

40 papers

NM_000233.4

p.N312S

c.935A>G

1 paper

NM_000233.4

p.N312T

c.935A>C