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.G20R

c.58G>C

Surrounding Variants

2 papers

NM_000369.5

p.G20A

c.59G>C

2 papers

NM_000369.5

p.G20_G21insFs

c.60_61insG

1 paper

NM_000369.5

p.L19insFs

c.55_56ins13

1 paper

NM_000369.5

p.L19insFs

c.56_57ins14

1 paper

NM_000369.5

p.G21R

c.61G>C

1 paper

NM_000369.5

p.D18A

c.53A>C

1 paper

NM_000369.5

p.D18Y

c.52G>T

1 paper

NM_000369.5

p.M22K

c.65T>A

1 paper

NM_000369.5

p.R17R

c.49A>C

4 papers

NM_000369.5

p.R17G

c.49A>G

1 paper

NM_000369.5

p.P16P

c.48C>A

1 paper

NM_000369.5

p.G23V

c.68G>T