Varaico: Literature-Extracted Genetic Variants

Gene:PHPT1
Variant:p.A37delFs

PHPT1

53 papers

RefSeq Summary

This gene encodes an enzyme that catalyzes the reversible dephosphorylation of histidine residues in proteins. It may be involved in the dephosphorylation of G-beta and ATP citrate lyase and in negati...

Pfam Domains

Ocnusaa 6–117UCSCJanus/Ocnus family (Ocnus)

Gene Aliases

HGNC Name

phosphohistidine phosphatase 1

HGNC Alias Symbols

PHP14; HSPC141; CGI-202; DKFZp564M173; bA216L13.10

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014172.6
p.A37delFs
c.110delC
Surrounding Variants
1 paper
NM_014172.6
p.A35T
c.103G>A
2 papers
NM_014172.6
p.E39V
c.116A>T
2 papers
NM_014172.6
p.E39D
c.117G>C
2 papers
NM_014172.6
p.E39D
c.117G>T
1 paper
NM_014172.6
p.S40T
c.119G>C
1 paper
NM_014172.6
p.P31S
c.91C>T
1 paper
NM_014172.6
p.H28insFs
c.83_84insA
1 paper
NM_014172.6
p.R26Q
c.77G>A
1 paper
NM_014172.6
p.Y52N
c.154T>A
1 paper
NM_014172.6
p.K21_Y22insT
c.61_65ins3
1 paper
NM_014172.6
p.H53N
c.157C>A
1 paper
NM_014172.6
p.D17H
c.49G>C
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