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

6 papers

NM_000369.5

p.K700E

c.2098A>G

Surrounding Variants

1 paper

NM_000369.5

p.K700*

c.2098A>T

1 paper

NM_000369.5

p.K700fs

c.2098_2099fs

1 paper

NM_000369.5

p.R701insFs

c.2102dupG

1 paper

NM_000369.5

p.R701fs

c.2101_2102fs

1 paper

NM_000369.5

p.Q702del1

c.2104_2106delCAG

1 paper

NM_000369.5

p.Q702fs

c.2104_2105fs

1 paper

NM_000369.5

p.A703T

c.2107G>A

1 paper

NM_000369.5

p.A703G

c.2108C>G

1 paper

NM_000369.5

p.F696C

c.2087T>G

1 paper

NM_000369.5

p.Q704Q

c.2112G>A

3 papers

NM_000369.5

p.A705fs

c.2113_2114fs

1 paper

NM_000369.5

p.Y706*

c.2118C>A