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.T725A

c.2173A>G

Surrounding Variants

1 paper

NM_000369.5

p.T725P

c.2173A>C

1 paper

NM_000369.5

p.V724I

c.2170G>A

1 paper

NM_000369.5

p.E727*

c.2179G>T

23 papers

NM_000369.5

p.E727D

c.2181G>C

22 papers

NM_000369.5

p.E727D

c.2181G>T

1 paper

NM_000369.5

p.M728fs

c.2182_2183fs

1 paper

NM_000369.5

p.M728T

c.2183T>C

3 papers

NM_000369.5

p.V721F

c.2161G>T

1 paper

NM_000369.5

p.Q720H

c.2160G>C

1 paper

NM_000369.5

p.Q720H

c.2160G>T

1 paper

NM_000369.5

p.Q720E

c.2158C>G

1 paper

NM_000369.5

p.I719fs

c.2155_2156fs