Varaico: Literature-Extracted Genetic Variants

Gene:PTH
Variant:p.K111N

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.K111N
c.333A>T
Surrounding Variants
1 paper
NM_000315.4
p.K111N
c.333A>C
1 paper
NM_000315.4
p.K111R
c.332A>G
1 paper
NM_000315.4
p.A112V
c.335C>T
2 papers
NM_000315.4
p.T110T
c.330T>C
1 paper
NM_000315.4
p.K113R
c.338A>G
1 paper
NM_000315.4
p.T110A
c.328A>G
1 paper
NM_000315.4
p.S114A
c.340T>G
1 paper
NM_000315.4
p.S114T
c.340T>A
1 paper
NM_000315.4
p.Q115K
c.343C>A
1 paper
NM_000315.4
p.*116*
c.347G>A
1 paper
NM_000315.4
p.V106delFs
c.318delC
1 paper
NM_000315.4
p.V106V
c.318G>C
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