Varaico: Literature-Extracted Genetic Variants

Gene:PTHLH
Variant:p.L44L

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.L44L
c.132C>A
Surrounding Variants
1 paper
NM_198965.2
p.L44delFs
c.131delA
1 paper
NM_198965.2
p.L44R
c.131T>G
8 papers
NM_198965.2
p.L44P
c.131T>C
1 paper
NM_198965.2
p.L43L
c.129C>T
2 papers
NM_198965.2
p.Q42P
c.125A>C
1 paper
NM_198965.2
p.Q42K
c.124C>A
1 paper
NM_198965.2
p.K47R
c.140A>G
2 papers
NM_198965.2
p.H41L
c.122A>T
2 papers
NM_198965.2
p.G48E
c.143G>A
1 paper
NM_198965.2
p.K49Q
c.145A>C
1 paper
NM_198965.2
p.S39_E40insFs
c.117_118insCA
1 paper
NM_198965.2
p.K49insFs
c.146dupA
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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."