Varaico: Literature-Extracted Genetic Variants

Gene:PTHLH
Variant:p.Q52L

PTHLH

407 papers

RefSeq Summary

The protein encoded by this gene is a member of the parathyroid hormone family. This hormone, via its receptor, PTHR1, regulates endochondral bone development and epithelial-mesenchymal interactions d...

Pfam Domains

Parathyroidaa 35–129UCSCParathyroid hormone family

Gene Aliases

HGNC Name

parathyroid hormone like hormone

HGNC Alias Symbols

PTHRP; HHM; PTHR

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_198965.2
p.Q52L
c.155A>T
Surrounding Variants
1 paper
NM_198965.2
p.S50fs
c.148_149fs
1 paper
NM_198965.2
p.K49insFs
c.146dupA
1 paper
NM_198965.2
p.K49Q
c.145A>C
9 papers
NM_198965.2
p.R56*
c.166C>T
2 papers
NM_198965.2
p.G48E
c.143G>A
7 papers
NM_198965.2
p.R57*
c.169C>T
1 paper
NM_198965.2
p.K47R
c.140A>G
1 paper
NM_198965.2
p.F59I
c.175T>A
1 paper
NM_198965.2
p.L60fs
c.178_179fs
1 paper
NM_198965.2
p.L60I
c.178C>A
1 paper
NM_198965.2
p.L44L
c.132C>A
1 paper
NM_198965.2
p.L44delFs
c.131delA
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."