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

2 papers

NM_000369.5

p.I44M

c.132T>G

Surrounding Variants

1 paper

NM_000369.5

p.D43A

c.128A>C

1 paper

NM_000369.5

p.R46C

c.136C>T

10 papers

NM_000369.5

p.R46P

c.137G>C

1 paper

NM_000369.5

p.I47fs

c.139_140fs

1 paper

NM_000369.5

p.K42ins1

c.124_125insTGC

1 paper

NM_000369.5

p.K42*

c.124A>T

1 paper

NM_000369.5

p.I47T

c.140T>C

2 papers

NM_000369.5

p.P48delFs

c.144delC

1 paper

NM_000369.5

p.C41*

c.123C>A

1 paper

NM_000369.5

p.C41_K42insFs

c.123_124ins4

2 papers

NM_000369.5

p.P48S

c.142C>T

43 papers

NM_000369.5

p.C41S

c.122G>C