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.Y510S

c.1529A>C

Surrounding Variants

2 papers

NM_000369.5

p.T511M

c.1532C>T

40 papers

NM_000369.5

p.V509A

c.1526T>C

2 papers

NM_000369.5

p.V509M

c.1525G>A

1 paper

NM_000369.5

p.V509L

c.1525G>C

1 paper

NM_000369.5

p.V509L

c.1525G>T

4 papers

NM_000369.5

p.L512M

c.1534C>A

6 papers

NM_000369.5

p.S508L

c.1523C>T

30 papers

NM_000369.5

p.L512Q

c.1535T>A

28 papers

NM_000369.5

p.L512R

c.1535T>G

1 paper

NM_000369.5

p.S508A

c.1522T>G

2 papers

NM_000369.5

p.T513P

c.1537A>C

1 paper

NM_000369.5

p.T513R

c.1538C>G