Varaico: Literature-Extracted Genetic Variants

Gene:REST
Variant:p.H379P

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
2 papers
NM_005612.5
p.H379P
c.1136A>C
Surrounding Variants
1 paper
NM_005612.5
p.H383Y
c.1147C>T
1 paper
NM_005612.5
p.N375_F376ins5
c.1123_1127ins15
1 paper
NM_005612.5
p.Q388*
c.1162C>T
1 paper
NM_005612.5
p.D367Y
c.1099G>T
1 paper
NM_005612.5
p.K401_C402delFs
c.1202_1205del4
1 paper
NM_005612.5
p.L404V
c.1210C>G
1 paper
NM_005612.5
p.V354L
c.1060G>C
1 paper
NM_005612.5
p.V354F
c.1060G>T
1 paper
NM_005612.5
p.Q405*
c.1213C>T
1 paper
NM_005612.5
p.R349H
c.1046G>A
1 paper
NM_005612.5
p.R349delFs
c.1047delC
1 paper
NM_005612.5
p.R349C
c.1045C>T
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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."