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

1 paper

NM_000369.5

p.I640T

c.1919T>C

Surrounding Variants

3 papers

NM_000369.5

p.I640L

c.1918A>C

8 papers

NM_000369.5

p.I640V

c.1918A>G

1 paper

NM_000369.5

p.I640F

c.1918A>T

1 paper

NM_000369.5

p.I640M

c.1920C>G

2 papers

NM_000369.5

p.S641A

c.1921T>G

1 paper

NM_000369.5

p.P639Q

c.1916C>A

3 papers

NM_000369.5

p.P639L

c.1916C>T

5 papers

NM_000369.5

p.P639A

c.1915C>G

31 papers

NM_000369.5

p.P639S

c.1915C>T

2 papers

NM_000369.5

p.F642I

c.1924T>A

2 papers

NM_000369.5

p.A638V

c.1913C>T

1 paper

NM_000369.5

p.Y643_S646del4

c.1927_1937del12