Varaico: Literature-Extracted Genetic Variants

Gene:PTH1R
Variant:p.P268_P269insFs

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.P268_P269insFs
c.804_805insG
Surrounding Variants
5 papers
NM_000316.3
p.P271insFs
c.813dupT
2 papers
NM_000316.3
p.A272fs
c.814_815fs
1 paper
NM_000316.3
p.T273P
c.817A>C
1 paper
NM_000316.3
p.G277A
c.830G>C
9 papers
NM_000316.3
p.R255H
c.764G>A
2 papers
NM_000316.3
p.Y278_A279Splc
c.834+11C>A
1 paper
NM_000316.3
p.R255S
c.763C>A
1 paper
NM_000316.3
p.T249T
c.747G>A
1 paper
NM_000316.3
p.T249K
c.746C>A
1 paper
NM_000316.3
p.T249S
c.745A>T
1 paper
NM_000316.3
p.G247C
c.739G>T
1 paper
NM_000316.3
p.A242V
c.725C>T
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