Varaico: Literature-Extracted Genetic Variants

Gene:REST
Variant:p.E498delFs

REST

321 papers

RefSeq Summary

This gene was initially identified as a transcriptional repressor that represses neuronal genes in non-neuronal tissues. However, depending on the cellular context, this gene can act as either an onco...

Pfam Domains

zf-C2H2_RESTaa 157–186UCSCREST-like, C2H2-type zinc finger
zf-C2H2aa 304–326UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

RE1 silencing transcription factor

HGNC Previous Symbol

DFNA27

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_005612.5
p.E498delFs
c.1493_1494delAG
Surrounding Variants
3 papers
NM_005612.5
p.E498fs
c.1492_1493fs
1 paper
NM_005612.5
p.K500fs
c.1498_1499fs
1 paper
NM_005612.5
p.R493Q
c.1478G>A
1 paper
NM_005612.5
p.R491*
c.1471A>T
1 paper
NM_005612.5
p.V504M
c.1510G>A
1 paper
NM_005612.5
p.P479A
c.1435C>G
1 paper
NM_005612.5
p.E476V
c.1427A>T
1 paper
NM_005612.5
p.K520R
c.1559A>G
1 paper
NM_005612.5
p.D472Y
c.1414G>T
1 paper
NM_005612.5
p.R471R
c.1413A>G
1 paper
NM_005612.5
p.E469G
c.1406A>G
1 paper
NM_005612.5
p.A468P
c.1402G>C
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