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

71 papers

NM_000369.5

p.P162A

c.484C>G

Surrounding Variants

2 papers

NM_000369.5

p.P162T

c.484C>A

4 papers

NM_000369.5

p.P162S

c.484C>T

3 papers

NM_000369.5

p.P162L

c.485C>T

1 paper

NM_000369.5

p.Y163F

c.488A>T

2 papers

NM_000369.5

p.D160E

c.480C>A

2 papers

NM_000369.5

p.D160E

c.480C>G

4 papers

NM_000369.5

p.D160A

c.479A>C

1 paper

NM_000369.5

p.D160N

c.478G>A

2 papers

NM_000369.5

p.M164K

c.491T>A

1 paper

NM_000369.5

p.T159K

c.476C>A

1 paper

NM_000369.5

p.T159I

c.476C>T

1 paper

NM_000369.5

p.T165M

c.494C>T