Varaico: Literature-Extracted Genetic Variants

Gene:PTH2
Variant:p.L14del1

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
3 papers
NM_178449.4
p.L14del1
c.40_41delCAG
Surrounding Variants
7 papers
NM_178449.4
p.L22V
c.64C>G
1 paper
NM_178449.4
p.L14delFs
c.40delG
1 paper
NM_178449.4
p.L14fs
c.40_41fs
1 paper
NM_178449.4
p.A35V
c.104C>T
2 papers
NM_178449.4
p.R8delFs
c.22delT
1 paper
NM_178449.4
p.V41F
c.121G>T
1 paper
NM_178449.4
p.A52G
c.155C>G
1 paper
NM_178449.4
p.D53_P54insFs
c.159_160ins4
1 paper
NM_178449.4
p.P59S
c.175C>T
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
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