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.D619A

c.1856A>C

Surrounding Variants

34 papers

NM_000369.5

p.D619G

c.1856A>G

2 papers

NM_000369.5

p.D619H

c.1855G>C

1 paper

NM_000369.5

p.T620A

c.1858A>G

5 papers

NM_000369.5

p.T620S

c.1858A>T

1 paper

NM_000369.5

p.T620N

c.1859C>A

5 papers

NM_000369.5

p.T620S

c.1859C>G

10 papers

NM_000369.5

p.T620I

c.1859C>T

1 paper

NM_000369.5

p.K618*

c.1852A>T

1 paper

NM_000369.5

p.D617A

c.1850A>C

1 paper

NM_000369.5

p.D617H

c.1849G>C

14 papers

NM_000369.5

p.D617Y

c.1849G>T

1 paper

NM_000369.5

p.G616A

c.1847G>C