Varaico: Literature-Extracted Genetic Variants

Gene:PTH1R
Variant:p.W361R

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.W361R
c.1081T>A
Surrounding Variants
1 paper
NM_000316.3
p.W361R
c.1081T>C
5 papers
NM_000316.3
p.W361*
c.1082G>A
5 papers
NM_000316.3
p.W361*
c.1083G>A
1 paper
NM_000316.3
p.K360*
c.1078A>T
1 paper
NM_000316.3
p.Q364L
c.1091A>T
14 papers
NM_000316.3
p.V365delFs
c.1093delG
1 paper
NM_000316.3
p.G357R
c.1069G>A
1 paper
NM_000316.3
p.G357R
c.1069G>C
3 papers
NM_000316.3
p.V365fs
c.1093_1094fs
1 paper
NM_000316.3
p.L368L
c.1102C>T
1 paper
NM_000316.3
p.C351*
c.1053C>A
1 paper
NM_000316.3
p.C351fs
c.1051_1052fs
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