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

14 papers

NM_000369.5

p.L467P

c.1400T>C

Surrounding Variants

2 papers

NM_000369.5

p.L467V

c.1399C>G

2 papers

NM_000369.5

p.Y466C

c.1397A>G

1 paper

NM_000369.5

p.Y466F

c.1397A>T

1 paper

NM_000369.5

p.I470V

c.1408A>G

1 paper

NM_000369.5

p.G464E

c.1391G>A

1 paper

NM_000369.5

p.G464V

c.1391G>T

3 papers

NM_000369.5

p.G464_Y476Fs

c.1391_1428delinsTFs

1 paper

NM_000369.5

p.G464fs

c.1390_1391fs

2 papers

NM_000369.5

p.A471T

c.1411G>A

1 paper

NM_000369.5

p.M463R

c.1388T>G

33 papers

NM_000369.5

p.M463V

c.1387A>G

1 paper

NM_000369.5

p.C462S

c.1385G>C