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.S25S

c.75G>A

Surrounding Variants

1 paper

NM_000369.5

p.S25L

c.74C>T

10 papers

NM_000369.5

p.P27T

c.79C>A

1 paper

NM_000369.5

p.P27A

c.79C>G

1 paper

NM_000369.5

p.C24S

c.71G>C

1 paper

NM_000369.5

p.P27R

c.80C>G

1 paper

NM_000369.5

p.C24S

c.70T>A

1 paper

NM_000369.5

p.C24G

c.70T>G

1 paper

NM_000369.5

p.C24delFs

c.71delG

1 paper

NM_000369.5

p.G23V

c.68G>T

1 paper

NM_000369.5

p.P28H

c.83C>A

1 paper

NM_000369.5

p.M22K

c.65T>A

1 paper

NM_000369.5

p.C29S

c.85T>A