Varaico: Literature-Extracted Genetic Variants

Gene:PTH1R
Variant:p.E169*

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
5 papers
NM_000316.3
p.E169*
c.505G>T
Surrounding Variants
1 paper
NM_000316.3
p.E169K
c.505G>A
1 paper
NM_000316.3
p.E169A
c.506A>C
1 paper
NM_000316.3
p.S168R
c.504C>A
1 paper
NM_000316.3
p.S168R
c.504C>G
1 paper
NM_000316.3
p.E169E
c.507G>A
1 paper
NM_000316.3
p.S168R
c.502A>C
1 paper
NM_000316.3
p.L174R
c.521T>G
1 paper
NM_000316.3
p.T175A
c.523A>G
1 paper
NM_000316.3
p.N176S
c.527A>G
1 paper
NM_000316.3
p.E177A
c.530A>C
3 papers
NM_000316.3
p.T178A
c.532A>G
1 paper
NM_000316.3
p.R179C
c.535C>T
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