Varaico: Literature-Extracted Genetic Variants

Gene:PTH2
Variant:p.P59S

PTH2

27 papers

RefSeq Summary

This gene encodes the precursor of a peptide hormone that shares sequence similarity with the parathyroid hormone. This gene is expressed in various regions of the brain where it plays a role in the r...

Pfam Domains

TIP39aa 49–99UCSCTIP39 peptide

Gene Aliases

HGNC Name

parathyroid hormone 2

HGNC Alias Symbol

TIP39

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_178449.4
p.P59S
c.175C>T
Surrounding Variants
1 paper
NM_178449.4
p.P59T
c.175C>A
1 paper
NM_178449.4
p.R60L
c.179G>T
1 paper
NM_178449.4
p.S62G
c.184A>G
1 paper
NM_178449.4
p.L63R
c.188T>G
1 paper
NM_178449.4
p.L63P
c.188T>C
1 paper
NM_178449.4
p.A64S
c.190G>T
1 paper
NM_178449.4
p.D53_P54insFs
c.159_160ins4
1 paper
NM_178449.4
p.A52G
c.155C>G
2 papers
NM_178449.4
p.A64_A66del3
c.190_197del9
1 paper
NM_178449.4
p.D67E
c.201C>G
1 paper
NM_178449.4
p.D67E
c.201C>A
1 paper
NM_178449.4
p.A99E
c.296C>A
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