Varaico: Literature-Extracted Genetic Variants

Gene:PTH1R
Variant:p.V204V

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.V204V
c.612A>G
Surrounding Variants
12 papers
NM_000316.3
p.V204E
c.611T>A
1 paper
NM_000316.3
p.V204A
c.611T>C
1 paper
NM_000316.3
p.V206A
c.617T>C
1 paper
NM_000316.3
p.S201F
c.602C>T
3 papers
NM_000316.3
p.A210V
c.629C>T
4 papers
NM_000316.3
p.F212insFs
c.636dupT
3 papers
NM_000316.3
p.V197E
c.590T>A
2 papers
NM_000316.3
p.R213W
c.637A>T
1 paper
NM_000316.3
p.Y195F
c.584A>T
1 paper
NM_000316.3
p.G194S
c.580G>A
1 paper
NM_000316.3
p.G194R
c.580G>C
1 paper
NM_000316.3
p.G194fs
c.580_581fs
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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."