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.P615A

c.1843C>G

Surrounding Variants

1 paper

NM_000369.5

p.N614S

c.1841A>G

1 paper

NM_000369.5

p.Y613*

c.1839C>A

1 paper

NM_000369.5

p.Y613*

c.1839C>G

1 paper

NM_000369.5

p.G616A

c.1847G>C

8 papers

NM_000369.5

p.Y613C

c.1838A>G

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.D617A

c.1850A>C

1 paper

NM_000369.5

p.Q612L

c.1835A>T

1 paper

NM_000369.5

p.K618*

c.1852A>T

2 papers

NM_000369.5

p.D619H

c.1855G>C

2 papers

NM_000369.5

p.D619A

c.1856A>C