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.E30Q

c.88G>C

Surrounding Variants

1 paper

NM_000369.5

p.E30K

c.88G>A

2 papers

NM_000369.5

p.E30V

c.89A>T

1 paper

NM_000369.5

p.C29*

c.87C>A

2 papers

NM_000369.5

p.C29W

c.87C>G

1 paper

NM_000369.5

p.C29S

c.86G>C

3 papers

NM_000369.5

p.C31S

c.91T>A

1 paper

NM_000369.5

p.C29S

c.85T>A

1 paper

NM_000369.5

p.C31Y

c.92G>A

3 papers

NM_000369.5

p.C31S

c.92G>C

5 papers

NM_000369.5

p.C31*

c.93C>A

1 paper

NM_000369.5

p.P28H

c.83C>A

2 papers

NM_000369.5

p.H32Y

c.94C>T