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

57 papers

NM_000369.5

p.S281N

c.842G>A

Surrounding Variants

17 papers

NM_000369.5

p.S281T

c.842G>C

29 papers

NM_000369.5

p.S281I

c.842G>T

2 papers

NM_000369.5

p.S281R

c.841A>C

2 papers

NM_000369.5

p.S281G

c.841A>G

1 paper

NM_000369.5

p.S281C

c.841A>T

2 papers

NM_000369.5

p.S281R

c.843C>A

2 papers

NM_000369.5

p.S281R

c.843C>G

1 paper

NM_000369.5

p.S281insFs

c.841_842insA

1 paper

NM_000369.5

p.P280A

c.838C>G

2 papers

NM_000369.5

p.Y279*

c.837C>A

2 papers

NM_000369.5

p.Y279*

c.837C>G

1 paper

NM_000369.5

p.C283S

c.847T>A