Varaico: Literature-Extracted Genetic Variants

Gene:PTH1R
Variant:p.I458R

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
18 papers
NM_000316.3
p.I458R
c.1373T>G
Surrounding Variants
9 papers
NM_000316.3
p.I458K
c.1373T>A
1 paper
NM_000316.3
p.F461S
c.1382T>C
9 papers
NM_000316.3
p.N463N
c.1389T>C
8 papers
NM_000316.3
p.G452E
c.1355G>A
5 papers
NM_000316.3
p.Q451_G452Splc
c.1354-1G>A
3 papers
NM_000316.3
p.E465K
c.1393G>A
2 papers
NM_000316.3
p.Q451R
c.1352A>G
1 paper
NM_000316.3
p.F450L
c.1350C>A
1 paper
NM_000316.3
p.F450L
c.1350C>G
1 paper
NM_000316.3
p.F450L
c.1348T>C
4 papers
NM_000316.3
p.F450del1
c.1348_1350delTTC
1 paper
NM_000316.3
p.N448D
c.1342A>G
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