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.T56fs

c.166_167fs

Surrounding Variants

1 paper

NM_000369.5

p.L57delFs

c.169_170delCT

1 paper

NM_000369.5

p.T56I

c.167C>T

1 paper

NM_000369.5

p.L57M

c.169C>A

3 papers

NM_000369.5

p.L57P

c.170T>C

1 paper

NM_000369.5

p.L57R

c.170T>G

2 papers

NM_000369.5

p.L57Splc

c.170+1G>A

1 paper

NM_000369.5

p.S53R

c.159T>A

1 paper

NM_000369.5

p.S53S

c.159T>C

1 paper

NM_000369.5

p.S53R

c.159T>G

1 paper

NM_000369.5

p.S53R

c.157A>C

70 papers

NM_000369.5

p.P52T

c.154C>A

1 paper

NM_000369.5

p.P52A

c.154C>G