Varaico: Literature-Extracted Genetic Variants

Gene:PTH
Variant:p.M1delFs

PTH

439 papers

RefSeq Summary

This gene encodes a member of the parathyroid family of proteins. The encoded preproprotein is proteolytically processed to generate a protein that binds to the parathyroid hormone/parathyroid hormone...

Pfam Domains

Parathyroidaa 30–113UCSCParathyroid hormone family

Gene Aliases

HGNC Name

parathyroid hormone

HGNC Alias Symbol

PTH1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000315.4
p.M1delFs
c.2delA
Surrounding Variants
3 papers
NM_000315.4
p.M1I
c.3G>T
1 paper
NM_000315.4
p.M1insFs
c.2_3insT
2 papers
NM_000315.4
p.M1I
c.3G>C
6 papers
NM_000315.4
p.M1I
c.3G>A
6 papers
NM_000315.4
p.M1T
c.2T>C
1 paper
NM_000315.4
p.M1K
c.2T>A
1 paper
NM_000315.4
p.I2L
c.4A>T
1 paper
NM_000315.4
p.I2L
c.4A>C
1 paper
NM_000315.4
p.I2delFs
c.4delT
2 papers
NM_000315.4
p.M1V
c.1A>G
1 paper
NM_000315.4
p.A4S
c.10G>T
1 paper
NM_000315.4
p.A4T
c.10G>A
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