Varaico: Literature-Extracted Genetic Variants

TSHR

1,179 papers

RefSeq Summary

The protein encoded by this gene is a membrane protein and a major controller of thyroid cell metabolism. The encoded protein is a receptor for thyrothropin and thyrostimulin, and its activity is medi...

Pfam Domains

LRR_5aa 53–141UCSCBspA type Leucine rich repeat region (6 copies)

7tm_1aa 431–678UCSC7 transmembrane receptor (rhodopsin family)

Gene Aliases

HGNC Name

thyroid stimulating hormone receptor

HGNC Alias Symbol

LGR3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

11 papers

NM_000369.5

p.L677V

c.2029C>G

Surrounding Variants

1 paper

NM_000369.5

p.L677F

c.2029C>T

1 paper

NM_000369.5

p.Y678N

c.2032T>A

1 paper

NM_000369.5

p.P675Q

c.2024C>A

1 paper

NM_000369.5

p.Y678*

c.2034T>A

1 paper

NM_000369.5

p.Y678*

c.2034T>G

1 paper

NM_000369.5

p.N674S

c.2021A>G

3 papers

NM_000369.5

p.N674D

c.2020A>G

4 papers

NM_000369.5

p.C672W

c.2016T>G

31 papers

NM_000369.5

p.C672Y

c.2015G>A

1 paper

NM_000369.5

p.T682A

c.2044A>G

24 papers

NM_000369.5

p.N670S

c.2009A>G

1 paper

NM_000369.5

p.A684D

c.2051C>A