Varaico: Literature-Extracted Genetic Variants

Gene:PTH1R
Variant:p.F450del1

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
4 papers
NM_000316.3
p.F450del1
c.1348_1350delTTC
Surrounding Variants
1 paper
NM_000316.3
p.F450L
c.1348T>C
1 paper
NM_000316.3
p.N448D
c.1342A>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.F447L
c.1341C>A
1 paper
NM_000316.3
p.F447L
c.1341C>G
2 papers
NM_000316.3
p.Q451R
c.1352A>G
1 paper
NM_000316.3
p.F447S
c.1340T>C
1 paper
NM_000316.3
p.F447L
c.1339T>C
4 papers
NM_000316.3
p.H442D
c.1324C>G
3 papers
NM_000316.3
p.Q440R
c.1319A>G
1 paper
NM_000316.3
p.Q440L
c.1319A>T
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