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.F696C

c.2087T>G

Surrounding Variants

2 papers

NM_000369.5

p.L693F

c.2077C>T

6 papers

NM_000369.5

p.K700E

c.2098A>G

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

12 papers

NM_000369.5

p.I691F

c.2071A>T

1 paper

NM_000369.5

p.Q702del1

c.2104_2106delCAG

1 paper

NM_000369.5

p.F690L

c.2070C>A

1 paper

NM_000369.5

p.F690L

c.2070C>G

1 paper

NM_000369.5

p.Q702fs

c.2104_2105fs

1 paper

NM_000369.5

p.F690L

c.2068T>C