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.F634I

c.1900T>A

Surrounding Variants

39 papers

NM_000369.5

p.D633E

c.1899C>A

39 papers

NM_000369.5

p.D633E

c.1899C>G

18 papers

NM_000369.5

p.D633A

c.1898A>C

7 papers

NM_000369.5

p.I635V

c.1903A>G

5 papers

NM_000369.5

p.D633N

c.1897G>A

39 papers

NM_000369.5

p.D633H

c.1897G>C

52 papers

NM_000369.5

p.D633Y

c.1897G>T

1 paper

NM_000369.5

p.I635T

c.1904T>C

1 paper

NM_000369.5

p.I635M

c.1905A>G

67 papers

NM_000369.5

p.T632I

c.1895C>T

22 papers

NM_000369.5

p.T632A

c.1894A>G

3 papers

NM_000369.5

p.C636S

c.1906T>A