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.H271N

c.811C>A

Surrounding Variants

1 paper

NM_000369.5

p.H271Y

c.811C>T

1 paper

NM_000369.5

p.H271P

c.812A>C

1 paper

NM_000369.5

p.L272I

c.814C>A

4 papers

NM_000369.5

p.L272V

c.814C>G

1 paper

NM_000369.5

p.L270V

c.808C>G

1 paper

NM_000369.5

p.L270F

c.808C>T

1 paper

NM_000369.5

p.L272F

c.814C>T

1 paper

NM_000369.5

p.T273A

c.817A>G

2 papers

NM_000369.5

p.S268_F269insFs

c.804_805insG

2 papers

NM_000369.5

p.R274W

c.820C>T

1 paper

NM_000369.5

p.R274delFs

c.821delG

5 papers

NM_000369.5

p.L267F

c.801G>C