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

28 papers

NM_000233.4

p.I542L

c.1624A>C

Surrounding Variants

19 papers

NM_000233.4

p.C543R

c.1627T>C

1 paper

NM_000233.4

p.F540del1

c.1618_1619delGAA

1 paper

NM_000233.4

p.C543Y

c.1628G>A

17 papers

NM_000233.4

p.C545*

c.1635C>A

4 papers

NM_000233.4

p.Y546F

c.1637A>T

1 paper

NM_000233.4

p.I549M

c.1647T>G

1 paper

NM_000233.4

p.L532P

c.1595T>C

1 paper

NM_000233.4

p.V553L

c.1657G>C

1 paper

NM_000233.4

p.V553A

c.1658T>C

27 papers

NM_000233.4

p.R554*

c.1660C>T

4 papers

NM_000233.4

p.I528_L529delFs

c.1582_1585del4

1 paper

NM_000233.4

p.P556A

c.1666C>G