Varaico: Literature-Extracted Genetic Variants

Gene:ICE2
Variant:p.R50C

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
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_024611.6
p.R50C
c.148C>T
Surrounding Variants
1 paper
NM_024611.6
p.P66L
c.197C>T
1 paper
NM_024611.6
p.T81A
c.241A>G
1 paper
NM_024611.6
p.P88delFs
c.262_263delGG
1 paper
NM_024611.6
p.R99H
c.296G>A
1 paper
NM_024611.6
p.Y108F
c.323A>T
1 paper
NM_024611.6
p.K114Q
c.340A>C
1 paper
NM_024611.6
p.V125_G126delFs
c.375_378del4
1 paper
NM_024611.6
p.V125_G126del2
c.373_377del6
1 paper
NM_024611.6
p.L136_D137Splc
c.409-10T>A
1 paper
NM_024611.6
p.E42delFs
c.125_126delTT
1 paper
NM_024611.6
p.S27S
c.81T>A
1 paper
NM_024611.6
p.S27P
c.79T>C
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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."