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.T516N

c.1547C>A

Surrounding Variants

1 paper

NM_000369.5

p.L517M

c.1549C>A

3 papers

NM_000369.5

p.I515M

c.1545C>G

1 paper

NM_000369.5

p.E518A

c.1553A>C

1 paper

NM_000369.5

p.R519S

c.1555C>A

9 papers

NM_000369.5

p.R519G

c.1555C>G

19 papers

NM_000369.5

p.R519C

c.1555C>T

1 paper

NM_000369.5

p.T513R

c.1538C>G

1 paper

NM_000369.5

p.T513M

c.1538C>T

8 papers

NM_000369.5

p.R519H

c.1556G>A

2 papers

NM_000369.5

p.T513P

c.1537A>C

4 papers

NM_000369.5

p.W520*

c.1559G>A

1 paper

NM_000369.5

p.W520S

c.1559G>C