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

2 papers

NM_000369.5

p.A644V

c.1931C>T

Surrounding Variants

1 paper

NM_000369.5

p.A644fs

c.1930_1931fs

3 papers

NM_000369.5

p.L645V

c.1933C>G

2 papers

NM_000369.5

p.Y643*

c.1929T>A

2 papers

NM_000369.5

p.Y643*

c.1929T>G

1 paper

NM_000369.5

p.Y643S

c.1928A>C

4 papers

NM_000369.5

p.Y643F

c.1928A>T

1 paper

NM_000369.5

p.Y643delFs

c.1929delT

2 papers

NM_000369.5

p.L645L

c.1935G>A

1 paper

NM_000369.5

p.Y643_S646del4

c.1927_1937del12

2 papers

NM_000369.5

p.F642I

c.1924T>A

2 papers

NM_000369.5

p.A647V

c.1940C>T

2 papers

NM_000369.5

p.S641A

c.1921T>G