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

54 papers

NM_000369.5

p.F631L

c.1891T>C

Surrounding Variants

19 papers

NM_000369.5

p.F631I

c.1891T>A

8 papers

NM_000369.5

p.F631V

c.1891T>G

4 papers

NM_000369.5

p.I630M

c.1890C>G

17 papers

NM_000369.5

p.F631S

c.1892T>C

16 papers

NM_000369.5

p.F631C

c.1892T>G

54 papers

NM_000369.5

p.F631L

c.1893C>A

53 papers

NM_000369.5

p.F631L

c.1893C>G

27 papers

NM_000369.5

p.I630L

c.1888A>C

22 papers

NM_000369.5

p.T632A

c.1894A>G

67 papers

NM_000369.5

p.T632I

c.1895C>T

57 papers

NM_000369.5

p.L629F

c.1887G>C

57 papers

NM_000369.5

p.L629F

c.1887G>T