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.L7_Q8insFs

c.20_23dup4

Surrounding Variants

1 paper

NM_000369.5

p.L6F

c.18G>C

1 paper

NM_000369.5

p.L7P

c.20T>C

1 paper

NM_000369.5

p.L7R

c.20T>G

1 paper

NM_000369.5

p.L6S

c.17T>C

1 paper

NM_000369.5

p.Q8*

c.22C>T

1 paper

NM_000369.5

p.D5V

c.14A>T

1 paper

NM_000369.5

p.Q8Q

c.24G>A

1 paper

NM_000369.5

p.D5N

c.13G>A

1 paper

NM_000369.5

p.D5H

c.13G>C

4 papers

NM_000369.5

p.A4A

c.12G>C

1 paper

NM_000369.5

p.L9P

c.26T>C

1 paper

NM_000369.5

p.P3P

c.9G>A