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.I292V

c.874A>G

Surrounding Variants

3 papers

NM_000369.5

p.I292F

c.874A>T

1 paper

NM_000369.5

p.R293delFs

c.877delA

1 paper

NM_000369.5

p.R293_G294delFs

c.879_880delAG

1 paper

NM_000369.5

p.G294R

c.880G>A

1 paper

NM_000369.5

p.G294A

c.881G>C

1 paper

NM_000369.5

p.Q289L

c.866A>T

1 paper

NM_000369.5

p.G294Splc

c.881+3A>G

2 papers

NM_000369.5

p.G294Splc

c.881+5G>A

1 paper

NM_000369.5

p.K287R

c.860A>G

1 paper

NM_000369.5

p.F286I

c.856T>A

1 paper

NM_000369.5

p.A285D

c.854C>A

1 paper

NM_000369.5

p.A285V

c.854C>T