Varaico: Literature-Extracted Genetic Variants

Gene:LIPI
Variant:p.G169G

LIPI

32 papers

RefSeq Summary

The protein encoded by this gene is a phospholipase that hydrolyzes phosphatidic acid to produce lysophosphatidic acid. Defects in this gene are a cause of susceptibility to familial hypertrigliceride...

Pfam Domains

Lipaseaa 7–334UCSCLipase

Gene Aliases

HGNC Name

lipase I

HGNC Alias Symbols

PRED5; LPDL; CT17; mPA-PLA1beta; PLA1C

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001302998.2
p.G169G
c.507A>G
Surrounding Variants
1 paper
NM_001302998.2
p.S159S
c.477C>T
1 paper
NM_001302998.2
p.L144_K145Splc
c.433-74C>T
2 papers
NM_001302998.2
p.S135T
c.404G>C
1 paper
NM_001302998.2
p.R115Q
c.344G>A
1 paper
NM_001302998.2
p.Q94R
c.281A>G
1 paper
NM_001302998.2
p.P90Q
c.269C>A
1 paper
NM_001302998.2
p.K75I
c.224A>T
4 papers
NM_001302998.2
p.C55Y
c.164G>A
1 paper
NM_001302998.2
p.T49delins
c.146delinsCATAAAT
1 paper
NM_001302998.2
p.S25F
c.74C>T
1 paper
NM_001302998.2
p.L182P
c.545T>C
1 paper
NM_001302998.2
p.P194S
c.580C>T
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