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.E251D

c.753A>C

Surrounding Variants

1 paper

NM_000369.5

p.E251D

c.753A>T

4 papers

NM_000369.5

p.E251A

c.752A>C

3 papers

NM_000369.5

p.E251K

c.751G>A

1 paper

NM_000369.5

p.L252Q

c.755T>A

17 papers

NM_000369.5

p.L252P

c.755T>C

1 paper

NM_000369.5

p.K250Q

c.748A>C

1 paper

NM_000369.5

p.K250E

c.748A>G

1 paper

NM_000369.5

p.I253T

c.758T>C

1 paper

NM_000369.5

p.I253R

c.758T>G

1 paper

NM_000369.5

p.I253M

c.759A>G

1 paper

NM_000369.5

p.K250_E251delFs

c.749_753del5

1 paper

NM_000369.5

p.A254insFs

c.760_761insA