Varaico: Literature-Extracted Genetic Variants

Gene:PTH1R
Variant:p.K240N

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.K240N
c.720G>C
Surrounding Variants
1 paper
NM_000316.3
p.K240N
c.720G>T
1 paper
NM_000316.3
p.K240M
c.719A>T
4 papers
NM_000316.3
p.D241E
c.723C>A
4 papers
NM_000316.3
p.D241E
c.723C>G
1 paper
NM_000316.3
p.V239A
c.716T>C
1 paper
NM_000316.3
p.A242V
c.725C>T
1 paper
NM_000316.3
p.I237N
c.710T>A
1 paper
NM_000316.3
p.V235A
c.704T>C
1 paper
NM_000316.3
p.G247C
c.739G>T
3 papers
NM_000316.3
p.R233H
c.698G>A
1 paper
NM_000316.3
p.T249S
c.745A>T
3 papers
NM_000316.3
p.L232R
c.695T>G
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