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.Y481F

c.1442A>T

Surrounding Variants

1 paper

NM_000369.5

p.Y481C

c.1442A>G

1 paper

NM_000369.5

p.Y481_G491del11

c.1441_1472del33

2 papers

NM_000369.5

p.E480A

c.1439A>C

2 papers

NM_000369.5

p.N483K

c.1449C>A

2 papers

NM_000369.5

p.N483K

c.1449C>G

1 paper

NM_000369.5

p.S479A

c.1435T>G

2 papers

NM_000369.5

p.H484N

c.1450C>A

1 paper

NM_000369.5

p.H478N

c.1432C>A

3 papers

NM_000369.5

p.A485D

c.1454C>A

1 paper

NM_000369.5

p.T477N

c.1430C>A

21 papers

NM_000369.5

p.T477I

c.1430C>T

15 papers

NM_000369.5

p.A485V

c.1454C>T