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.D118N

c.352G>A

Surrounding Variants

1 paper

NM_000369.5

p.I117R

c.350T>G

2 papers

NM_000369.5

p.Y116_I117del2

c.346_350del6

1 paper

NM_000369.5

p.T115A

c.343A>G

1 paper

NM_000369.5

p.A121G

c.362C>G

1 paper

NM_000369.5

p.K123_E124ins4

c.367_371ins12

1 paper

NM_000369.5

p.N113Y

c.337A>T

1 paper

NM_000369.5

p.R112S

c.336G>C

1 paper

NM_000369.5

p.R112S

c.336G>T

3 papers

NM_000369.5

p.R112_N113delFs

c.336_337delGA

1 paper

NM_000369.5

p.E124K

c.370G>A

2 papers

NM_000369.5

p.E124D

c.372G>C

2 papers

NM_000369.5

p.E124D

c.372G>T