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.M637I

c.1911G>C

Surrounding Variants

1 paper

NM_000369.5

p.M637I

c.1911G>A

1 paper

NM_000369.5

p.M637I

c.1911G>T

1 paper

NM_000369.5

p.A638T

c.1912G>A

3 papers

NM_000369.5

p.M637R

c.1910T>G

2 papers

NM_000369.5

p.M637V

c.1909A>G

2 papers

NM_000369.5

p.A638V

c.1913C>T

10 papers

NM_000369.5

p.C636W

c.1908C>G

5 papers

NM_000369.5

p.P639A

c.1915C>G

31 papers

NM_000369.5

p.P639S

c.1915C>T

1 paper

NM_000369.5

p.C636Y

c.1907G>A

3 papers

NM_000369.5

p.C636S

c.1907G>C

2 papers

NM_000369.5

p.C636F

c.1907G>T