Varaico: Literature-Extracted Genetic Variants

Gene:LHPP
Variant:p.S46P

LHPP

28 papers

Pfam Domains

Hydrolase_6aa 14–116UCSCHaloacid dehalogenase-like hydrolase
Hydrolase_likeaa 186–260UCSCHAD-hyrolase-like

Gene Aliases

HGNC Name

phospholysine phosphohistidine inorganic pyrophosphate phosphatase

HGNC Alias Symbol

HDHD2B

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_022126.4
p.S46P
c.136T>C
Surrounding Variants
1 paper
NM_022126.4
p.S46fs
c.136_137fs
1 paper
NM_022126.4
p.S46F
c.137C>T
1 paper
NM_022126.4
p.R45H
c.134G>A
2 papers
NM_022126.4
p.R47W
c.139C>T
1 paper
NM_022126.4
p.R45C
c.133C>T
2 papers
NM_022126.4
p.R47Q
c.140G>A
1 paper
NM_022126.4
p.K44R
c.131A>G
1 paper
NM_022126.4
p.L48M
c.142C>A
1 paper
NM_022126.4
p.R42S
c.126A>T
1 paper
NM_022126.4
p.V50M
c.148G>A
1 paper
NM_022126.4
p.V50L
c.148G>C
1 paper
NM_022126.4
p.V50L
c.148G>T
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