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.S234delFs

c.702delT

Surrounding Variants

3 papers

NM_000369.5

p.S234P

c.700T>C

1 paper

NM_000369.5

p.S234A

c.700T>G

1 paper

NM_000369.5

p.Q235*

c.703C>T

1 paper

NM_000369.5

p.Q235R

c.704A>G

1 paper

NM_000369.5

p.V233M

c.697G>A

2 papers

NM_000369.5

p.V233L

c.697G>C

2 papers

NM_000369.5

p.V233L

c.697G>T

1 paper

NM_000369.5

p.D232A

c.695A>C

1 paper

NM_000369.5

p.D232H

c.694G>C

2 papers

NM_000369.5

p.S237G

c.709A>G

2 papers

NM_000369.5

p.S237N

c.710G>A

1 paper

NM_000369.5

p.S237insFs

c.711dupT