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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CPNE4

Variant:p.H102Q

CPNE4

35 papers

RefSeq Summary

This gene belongs to the highly conserved copine family. It encodes a calcium-dependent, phospholipid-binding protein, which may be involved in membrane trafficking, mitogenesis and development. Alter...

Pfam Domains

C2aa 25–132UCSCC2 domain

C2aa 159–266UCSCC2 domain

Copineaa 326–543UCSCCopine

Gene Aliases

HGNC Name

copine 4

HGNC Alias Symbols

COPN4; CPN4

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr3:131723500 G>C

NM_130808.3

p.H102Q

c.306C>G

exact variant not in gnomAD69 overlapping SVs

Surrounding Variants

1 paper

chr3:131723511 T>A

NM_130808.3

p.S99C

c.295A>T

Exome: 0.0% (AC=2, hom=0)Genome: 0.0% (AC=1, hom=0)69 overlapping SVs

1 paper

chr3:131723483 G>T

NM_130808.3

p.A108D

c.323C>A

exact variant not in gnomAD69 overlapping SVs

1 paper

chr3:131723480 T>G

NM_130808.3

p.D109A

c.326A>C

exact variant not in gnomAD69 overlapping SVs

1 paper

chr3:131723532 G>A

NM_130808.3

p.R92W

c.274C>T

Exome: 0.0% (AC=3, hom=0)Genome: 0.0% (AC=1, hom=0)69 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."