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

2 papers

NM_000369.5

p.E247K

c.739G>A

Surrounding Variants

1 paper

NM_000369.5

p.E247Q

c.739G>C

2 papers

NM_000369.5

p.E247A

c.740A>C

6 papers

NM_000369.5

p.H248N

c.742C>A

1 paper

NM_000369.5

p.L246V

c.736C>G

1 paper

NM_000369.5

p.L249delFs

c.745delC

1 paper

NM_000369.5

p.G245A

c.734G>C

21 papers

NM_000369.5

p.G245S

c.733G>A

1 paper

NM_000369.5

p.L249Q

c.746T>A

1 paper

NM_000369.5

p.K250_E251delFs

c.749_753del5

1 paper

NM_000369.5

p.K250Q

c.748A>C

1 paper

NM_000369.5

p.K244E

c.730A>G

1 paper

NM_000369.5

p.K250E

c.748A>G