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.D460E

c.1380T>A

Surrounding Variants

1 paper

NM_000369.5

p.D460E

c.1380T>G

1 paper

NM_000369.5

p.D460A

c.1379A>C

3 papers

NM_000369.5

p.D460N

c.1378G>A

1 paper

NM_000369.5

p.D460fs

c.1378_1379fs

1 paper

NM_000369.5

p.F461S

c.1382T>C

1 paper

NM_000369.5

p.F461F

c.1383C>T

5 papers

NM_000369.5

p.A459A

c.1377G>A

1 paper

NM_000369.5

p.C462S

c.1384T>A

4 papers

NM_000369.5

p.C462R

c.1384T>C

1 paper

NM_000369.5

p.C462S

c.1385G>C

33 papers

NM_000369.5

p.M463V

c.1387A>G

2 papers

NM_000369.5

p.F458S

c.1373T>C