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.D474N

c.1420G>A

Surrounding Variants

4 papers

NM_000369.5

p.D474E

c.1422C>A

4 papers

NM_000369.5

p.D474E

c.1422C>G

1 paper

NM_000369.5

p.Y476_H478delFs

c.1426_1432del7

1 paper

NM_000369.5

p.L475F

c.1423C>T

10 papers

NM_000369.5

p.V473I

c.1417G>A

1 paper

NM_000369.5

p.Y476C

c.1427A>G

2 papers

NM_000369.5

p.A471T

c.1411G>A

1 paper

NM_000369.5

p.T477N

c.1430C>A

21 papers

NM_000369.5

p.T477I

c.1430C>T

1 paper

NM_000369.5

p.I470V

c.1408A>G

1 paper

NM_000369.5

p.H478N

c.1432C>A

1 paper

NM_000369.5

p.S479A

c.1435T>G