Varaico: Literature-Extracted Genetic Variants

Gene:PTH1R
Variant:p.Y134*

PTH1R

301 papers

RefSeq Summary

The protein encoded by this gene is a member of the G-protein coupled receptor family 2. This protein is a receptor for parathyroid hormone (PTH) and for parathyroid hormone-like hormone (PTHLH). The ...

Pfam Domains

HRMaa 105–173UCSCHormone receptor domain
7tm_2aa 184–455UCSC7 transmembrane receptor (Secretin family)

Gene Aliases

HGNC Name

parathyroid hormone 1 receptor

HGNC Previous Symbols

PTHR; PTHR1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000316.3
p.Y134*
c.402C>G
Surrounding Variants
1 paper
NM_000316.3
p.Y134*
c.402C>A
6 papers
NM_000316.3
p.Y134S
c.401A>C
1 paper
NM_000316.3
p.P132P
c.396G>T
24 papers
NM_000316.3
p.P132L
c.395C>T
2 papers
NM_000316.3
p.D137A
c.410A>C
1 paper
NM_000316.3
p.C131W
c.393T>G
1 paper
NM_000316.3
p.C131Y
c.392G>A
1 paper
NM_000316.3
p.C131S
c.392G>C
1 paper
NM_000316.3
p.C131F
c.392G>T
1 paper
NM_000316.3
p.C131S
c.391T>A
1 paper
NM_000316.3
p.H140L
c.419A>T
4 papers
NM_000316.3
p.G142V
c.425G>T
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