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.V448A

c.1343T>C

Surrounding Variants

1 paper

NM_000369.5

p.R450delFs

c.1348delC

3 papers

NM_000369.5

p.V448I

c.1342G>A

1 paper

NM_000369.5

p.V448L

c.1342G>C

1 paper

NM_000369.5

p.N447K

c.1341C>A

1 paper

NM_000369.5

p.N447K

c.1341C>G

1 paper

NM_000369.5

p.P449A

c.1345C>G

3 papers

NM_000369.5

p.N447N

c.1341C>T

4 papers

NM_000369.5

p.P449L

c.1346C>T

2 papers

NM_000369.5

p.P449P

c.1347C>T

3 papers

NM_000369.5

p.R450S

c.1348C>A

4 papers

NM_000369.5

p.R450C

c.1348C>T

116 papers

NM_000369.5

p.R450H

c.1349G>A