Varaico: Literature-Extracted Genetic Variants

Gene:REST
Variant:p.K316fs

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.K316fs
c.946_947fs
Surrounding Variants
2 papers
NM_005612.5
p.T320S
c.958A>T
2 papers
NM_005612.5
p.T320S
c.959C>G
1 paper
NM_005612.5
p.Y311delFs
c.933delC
4 papers
NM_005612.5
p.H322R
c.965A>G
1 paper
NM_005612.5
p.H322L
c.965A>T
1 paper
NM_005612.5
p.H322Q
c.966T>A
1 paper
NM_005612.5
p.H322Q
c.966T>G
1 paper
NM_005612.5
p.M323R
c.968T>G
2 papers
NM_005612.5
p.H326insFs
c.977dupA
1 paper
NM_005612.5
p.R302P
c.905G>C
2 papers
NM_005612.5
p.G300Splc
c.899-2A>G
1 paper
NM_005612.5
p.G328Splc
c.983-2247C>G
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