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

1–12 of 1420 variants

116 papers

NM_000369.5

p.R450H

c.1349G>A

82 papers

NM_000369.5

p.M453T

c.1358T>C

71 papers

NM_000369.5

p.P162A

c.484C>G

70 papers

NM_000369.5

p.P52T

c.154C>A

67 papers

NM_000369.5

p.T632I

c.1895C>T

58 papers

NM_000369.5

p.I568T

c.1703T>C

57 papers

NM_000369.5

p.S281N

c.842G>A

57 papers

NM_000369.5

p.L629F

c.1887G>C

57 papers

NM_000369.5

p.L629F

c.1887G>T

54 papers

NM_000369.5

p.F631L

c.1891T>C

54 papers

NM_000369.5

p.F631L

c.1893C>A

53 papers

NM_000369.5

p.F631L

c.1893C>G