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

9 papers

NM_000369.5

p.E575K

c.1723G>A

Surrounding Variants

1 paper

NM_000369.5

p.E575A

c.1724A>C

2 papers

NM_000369.5

p.T574S

c.1721C>G

2 papers

NM_000369.5

p.T574A

c.1720A>G

2 papers

NM_000369.5

p.T574S

c.1720A>T

1 paper

NM_000369.5

p.D573A

c.1718A>C

1 paper

NM_000369.5

p.P577T

c.1729C>A

1 paper

NM_000369.5

p.P577H

c.1730C>A

1 paper

NM_000369.5

p.M572L

c.1714A>C

1 paper

NM_000369.5

p.M572V

c.1714A>G

1 paper

NM_000369.5

p.M572L

c.1714A>T

1 paper

NM_000369.5

p.M572delins

c.1714_1715delinsGC

3 papers

NM_000369.5

p.A579V

c.1736C>T