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.W546R

c.1636T>C

Surrounding Variants

1 paper

NM_000369.5

p.W546R

c.1636T>A

41 papers

NM_000369.5

p.W546*

c.1637G>A

40 papers

NM_000369.5

p.W546*

c.1638G>A

1 paper

NM_000369.5

p.W546C

c.1638G>C

1 paper

NM_000369.5

p.W546C

c.1638G>T

1 paper

NM_000369.5

p.G545S

c.1633G>A

1 paper

NM_000369.5

p.G545fs

c.1633_1634fs

2 papers

NM_000369.5

p.G544E

c.1631G>A

1 paper

NM_000369.5

p.C548F

c.1643G>T

1 paper

NM_000369.5

p.I541V

c.1621A>G

1 paper

NM_000369.5

p.L551F

c.1651C>T

1 paper

NM_000369.5

p.L552V

c.1654C>G