Varaico: Literature-Extracted Genetic Variants

Gene:ELOC
Variant:p.P14R

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
1 paper
NM_005648.4
p.P14R
c.41C>G
Surrounding Variants
1 paper
NM_005648.4
p.P14P
c.42T>A
1 paper
NM_005648.4
p.E12D
c.36A>T
1 paper
NM_005648.4
p.E12D
c.36A>C
1 paper
NM_005648.4
p.Y8H
c.22T>C
1 paper
NM_005648.4
p.S23P
c.67T>C
4 papers
NM_005648.4
p.S23L
c.68C>T
1 paper
NM_005648.4
p.E5fs
c.13_14fs
1 paper
NM_005648.4
p.E4D
c.12G>C
1 paper
NM_005648.4
p.E4E
c.12G>A
1 paper
NM_005648.4
p.S23_S24delFs
c.68_71del4
1 paper
NM_005648.4
p.D25H
c.73G>C
1 paper
NM_005648.4
p.D25N
c.73G>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."