Varaico: Literature-Extracted Genetic Variants

Gene:PTH1R
Variant:p.K408*

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.K408*
c.1222A>T
Surrounding Variants
1 paper
NM_000316.3
p.S409A
c.1225T>G
23 papers
NM_000316.3
p.T410P
c.1228A>C
20 papers
NM_000316.3
p.T410R
c.1229C>G
1 paper
NM_000316.3
p.K405T
c.1214A>C
1 paper
NM_000316.3
p.V412A
c.1235T>C
1 paper
NM_000316.3
p.P415A
c.1243C>G
2 papers
NM_000316.3
p.P415S
c.1243C>T
1 paper
NM_000316.3
p.P415L
c.1244C>T
1 paper
NM_000316.3
p.M425L
c.1273A>C
1 paper
NM_000316.3
p.M425L
c.1273A>T
1 paper
NM_000316.3
p.T427A
c.1279A>G
1 paper
NM_000316.3
p.P428A
c.1282C>G
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