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.R647Q

c.1940G>A

Surrounding Variants

1 paper

NM_000233.4

p.R647R

c.1941G>A

1 paper

NM_000233.4

p.R647W

c.1939C>T

1 paper

NM_000233.4

p.R646H

c.1937G>A

1 paper

NM_000233.4

p.R646C

c.1936C>T

1 paper

NM_000233.4

p.Y651S

c.1952A>C

1 paper

NM_000233.4

p.R652T

c.1955G>C

1 paper

NM_000233.4

p.L638P

c.1913T>C

1 paper

NM_000233.4

p.S657A

c.1969T>G

1 paper

NM_000233.4

p.Y659*

c.1977C>G

1 paper

NM_000233.4

p.Y659*

c.1977C>A

1 paper

NM_000233.4

p.F634L

c.1902C>G

1 paper

NM_000233.4

p.F634L

c.1902C>A