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

2 papers

NM_000369.5

p.I654F

c.1960A>T

Surrounding Variants

1 paper

NM_000369.5

p.T655delFs

c.1963_1964delAC

2 papers

NM_000369.5

p.T655fs

c.1963_1964fs

3 papers

NM_000369.5

p.T655A

c.1963A>G

19 papers

NM_000369.5

p.L653V

c.1957C>G

1 paper

NM_000369.5

p.P652H

c.1955C>A

1 paper

NM_000369.5

p.P652T

c.1954C>A

1 paper

NM_000369.5

p.P652A

c.1954C>G

34 papers

NM_000369.5

p.V656F

c.1966G>T

1 paper

NM_000369.5

p.V656A

c.1967T>C

1 paper

NM_000369.5

p.K651E

c.1951A>G

1 paper

NM_000369.5

p.N658D

c.1972A>G

23 papers

NM_000369.5

p.N650Y

c.1948A>T