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

3 papers

NM_000369.5

p.E506A

c.1517A>C

Surrounding Variants

2 papers

NM_000369.5

p.E506K

c.1516G>A

3 papers

NM_000369.5

p.E506*

c.1516G>T

32 papers

NM_000369.5

p.S505R

c.1515C>A

32 papers

NM_000369.5

p.S505R

c.1515C>G

39 papers

NM_000369.5

p.S505N

c.1514G>A

32 papers

NM_000369.5

p.S505R

c.1513A>C

1 paper

NM_000369.5

p.S508A

c.1522T>G

6 papers

NM_000369.5

p.S508L

c.1523C>T

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

40 papers

NM_000369.5

p.V509A

c.1526T>C