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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:THEM4

Variant:p.L17R

THEM4

41 papers

RefSeq Summary

Protein kinase B (PKB) is a major downstream target of receptor tyrosine kinases that signal via phosphatidylinositol 3-kinase. Upon cell stimulation, PKB is translocated to the plasma membrane, where...

Pfam Domains

4HBTaa 148–223UCSCThioesterase superfamily

Gene Aliases

HGNC Name

thioesterase superfamily member 4

HGNC Alias Symbol

CTMP

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

4 papers

chr1:151909409 A>C

NM_053055.5

p.L17R

c.50T>G

Exome: 91.9% (AC=1237152, hom=568775)Genome: 91.5% (AC=139334, hom=63747)241 overlapping SVs

Surrounding Variants

1 paper

chr1:151909424 A>G

NM_053055.5

p.L12P

c.35T>C

Exome: 0.0% (AC=28, hom=0)Genome: n/a241 overlapping SVs

1 paper

chr1:151909371 G>A

NM_053055.5

p.R30*

c.88C>T

Exome: 0.0% (AC=1, hom=0)Genome: n/a241 overlapping SVs

1 paper

chr1:151909361 A>C

NM_053055.5

p.L33R

c.98T>G

exact variant not in gnomAD240 overlapping SVs

1 paper

chr1:151908617 G>A

NM_053055.5

p.L33_R34Splc

c.99+743C>T

Exome: n/aGenome: 58.2% (AC=88567, hom=26113)239 overlapping SVs

1 paper

chr1:151907285 G>A

NM_053055.5

p.L33_R34Splc

c.99+2075C>T

Exome: n/aGenome: 33.5% (AC=50909, hom=8886)240 overlapping SVs

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."