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.S567R

c.1699A>C

Surrounding Variants

1 paper

NM_000369.5

p.S567N

c.1700G>A

2 papers

NM_000369.5

p.S567R

c.1701T>A

1 paper

NM_000369.5

p.V566A

c.1697T>C

2 papers

NM_000369.5

p.S567R

c.1701T>G

1 paper

NM_000369.5

p.V566G

c.1697T>G

3 papers

NM_000369.5

p.I568L

c.1702A>C

22 papers

NM_000369.5

p.I568V

c.1702A>G

14 papers

NM_000369.5

p.I568F

c.1702A>T

1 paper

NM_000369.5

p.V566F

c.1696G>T

1 paper

NM_000369.5

p.I568N

c.1703T>A

58 papers

NM_000369.5

p.I568T

c.1703T>C

1 paper

NM_000369.5

p.I568M

c.1704C>G