Varaico: Literature-Extracted Genetic Variants

Gene:PTHLH
Variant:p.R4insFs

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.R4insFs
c.11dupG
Surrounding Variants
1 paper
NM_198965.2
p.L5insFs
c.14dupT
1 paper
NM_198965.2
p.R3insFs
c.7dupC
1 paper
NM_198965.2
p.R3P
c.8G>C
1 paper
NM_198965.2
p.R3Q
c.8G>A
1 paper
NM_198965.2
p.V6A
c.17T>C
1 paper
NM_198965.2
p.Q2H
c.6G>C
1 paper
NM_198965.2
p.Q2Q
c.6G>A
1 paper
NM_198965.2
p.Q7insFs
c.19dupC
3 papers
NM_198965.2
p.M1I
c.3G>T
2 papers
NM_198965.2
p.Q7_Q8insFs
c.21_22insT
1 paper
NM_198965.2
p.M1insFs
c.2dupT
1 paper
NM_198965.2
p.Q7fs
c.19_20fs
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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."