Varaico: Literature-Extracted Genetic Variants

Gene:PTH1R
Variant:p.V183L

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.V183L
c.547G>T
Surrounding Variants
1 paper
NM_000316.3
p.V183L
c.547G>C
1 paper
NM_000316.3
p.V183A
c.548T>C
2 papers
NM_000316.3
p.E182fs
c.544_545fs
2 papers
NM_000316.3
p.D185A
c.554A>C
7 papers
NM_000316.3
p.R186H
c.557G>A
1 paper
NM_000316.3
p.R186L
c.557G>T
3 papers
NM_000316.3
p.G188A
c.563G>C
9 papers
NM_000316.3
p.Y191delFs
c.572delA
1 paper
NM_000316.3
p.Y191fs
c.571_572fs
2 papers
NM_000316.3
p.Y191C
c.572A>G
1 paper
NM_000316.3
p.G194S
c.580G>A
1 paper
NM_000316.3
p.G194R
c.580G>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."