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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EAPP

Variant:p.Y11Y

EAPP

24 papers

RefSeq Summary

This gene encodes a phosphoprotein that interacts with several members of the E2F family of proteins. The protein localizes to the nucleus, and is present throughout the cell cycle except during mitos...

Pfam Domains

Eapp_Caa 138–283UCSCE2F-associated phosphoprotein

Gene Aliases

HGNC Name

E2F associated phosphoprotein

HGNC Alias Symbols

BM036; FLJ20578

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr14:34539596 G>A

NM_018453.4

p.Y11Y

c.33C>T

Exome: 0.0% (AC=1, hom=0)Genome: 0.0% (AC=1, hom=0)12 overlapping SVs

Surrounding Variants

1 paper

chr14:34536253 G>C

NM_018453.4

p.L33V

c.97C>G

exact variant not in gnomAD13 overlapping SVs

2 papers

chr14:34536252 A>C

NM_018453.4

p.L33R

c.98T>G

exact variant not in gnomAD13 overlapping SVs

1 paper

chr14:34536199 C>G

NM_018453.4

p.G51R

c.151G>C

exact variant not in gnomAD13 overlapping SVs

1 paper

chr14:34536199 C>T

NM_018453.4

p.G51R

c.151G>A

Exome: 0.0% (AC=48, hom=0)Genome: 0.0% (AC=7, hom=0)13 overlapping SVs

1 paper

chr14:34533482 A>G

NM_018453.4

p.I105T

c.314T>C

Exome: 0.0% (AC=11, hom=0)Genome: 0.0% (AC=3, hom=0)13 overlapping SVs

1 paper

chr14:34533462 C>T

NM_018453.4

p.E112K

c.334G>A

Exome: 0.0% (AC=19, hom=0)Genome: 0.0% (AC=1, hom=0)13 overlapping SVs

1 paper

chr14:34533453 C>T

NM_018453.4

p.D115N

c.343G>A

exact variant not in gnomAD13 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."