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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ICE2

Variant:p.L818F

ICE2

42 papers

RefSeq Summary

This gene encodes a protein component of the little elongation complex (LEC), which plays a role in small nuclear RNA (snRNA) transcription. The LEC regulates snRNA transcription by enhancing both RNA...

Pfam Domains

NARG2_Caa 720–930UCSCNMDA receptor-regulated gene protein 2 C-terminus

Gene Aliases

HGNC Name

interactor of little elongation complex ELL subunit 2

HGNC Previous Symbol

NARG2

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr15:60436201 G>A

NM_024611.6

p.L818F

c.2452C>T

NARG2_C

Exome: 0.0% (AC=1, hom=0)Genome: n/a18 overlapping SVs

Surrounding Variants

1 paper

chr15:60431952 A>G

NM_024611.6

p.I848T

c.2543T>C

NARG2_C

Exome: 0.0% (AC=378, hom=1)Genome: 0.0% (AC=40, hom=0)16 overlapping SVs

1 paper

chr15:60431931 T>C

NM_024611.6

p.S854Splc

c.2561+3A>G

Exome: 0.0% (AC=0, hom=0)Genome: n/a16 overlapping SVs

1 paper

chr15:60442473 CACTTTCAGTCAG>C

NM_024611.6

p.L786_S789del4

c.2356_2366del12

NARG2_C

exact variant not in gnomAD16 overlapping SVs

1 paper

chr15:60428620 A>C

NM_024611.6

p.S877A

c.2629T>G

NARG2_C

Exome: 0.1% (AC=1505, hom=13)Genome: 0.1% (AC=217, hom=2)16 overlapping SVs

1 paper

chr15:60428485 C>A

NM_001018089.3

p.G785*

c.2353G>T

NARG2_C

exact variant not in gnomAD16 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."