Varaico: Literature-Extracted Genetic Variants

Gene:ELOC
Variant:p.A100E

ELOC

109 papers

RefSeq Summary

This gene encodes the protein elongin C, which is a subunit of the transcription factor B (SIII) complex. The SIII complex is composed of elongins A/A2, B and C. It activates elongation by RNA polymer...

Pfam Domains

Skp1_POZaa 17–82UCSCSkp1 family, tetramerisation domain

Gene Aliases

HGNC Name

elongin C

HGNC Previous Symbol

TCEB1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_005648.4
p.A100E
c.299C>A
Surrounding Variants
9 papers
NM_005648.4
p.A100P
c.298G>C
1 paper
NM_005648.4
p.L101fs
c.301_302fs
1 paper
NM_005648.4
p.E98G
c.293A>G
1 paper
NM_005648.4
p.P97del1
c.289_290delAGG
2 papers
NM_005648.4
p.L104Q
c.311T>A
2 papers
NM_005648.4
p.A96S
c.286G>T
4 papers
NM_005648.4
p.I95N
c.284T>A
5 papers
NM_005648.4
p.A106D
c.317C>A
2 papers
NM_005648.4
p.E92G
c.275A>G
7 papers
NM_005648.4
p.E92K
c.274G>A
1 paper
NM_005648.4
p.S87_P91del0
c.261_272del12
1 paper
NM_005648.4
p.E89K
c.265G>A
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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."