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.L128I

c.382C>A

Surrounding Variants

1 paper

NM_000369.5

p.L128Q

c.383T>A

1 paper

NM_000369.5

p.L128R

c.383T>G

1 paper

NM_000369.5

p.L127F

c.379C>T

1 paper

NM_000369.5

p.K129delFs

c.387delG

2 papers

NM_000369.5

p.F130I

c.388T>A

1 paper

NM_000369.5

p.F130L

c.390C>G

2 papers

NM_000369.5

p.L125P

c.374T>C

3 papers

NM_000369.5

p.L125R

c.374T>G

2 papers

NM_000369.5

p.E124D

c.372G>C

2 papers

NM_000369.5

p.E124D

c.372G>T

1 paper

NM_000369.5

p.L131P

c.392T>C

2 papers

NM_000369.5

p.L131Splc

c.392+1G>A