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

43 papers

NM_000369.5

p.C41S

c.121T>A

Surrounding Variants

5 papers

NM_000369.5

p.K42insFs

c.124_125ins4

43 papers

NM_000369.5

p.C41S

c.122G>C

1 paper

NM_000369.5

p.T40N

c.119C>A

1 paper

NM_000369.5

p.C41*

c.123C>A

1 paper

NM_000369.5

p.C41_K42insFs

c.123_124ins4

1 paper

NM_000369.5

p.K42ins1

c.124_125insTGC

1 paper

NM_000369.5

p.T40A

c.118A>G

3 papers

NM_000369.5

p.T40S

c.118A>T

1 paper

NM_000369.5

p.K42*

c.124A>T

1 paper

NM_000369.5

p.V39A

c.116T>C

2 papers

NM_000369.5

p.V39delFs

c.116_117delTC

1 paper

NM_000369.5

p.D43A

c.128A>C