Varaico: Literature-Extracted Genetic Variants

Gene:REST
Variant:p.L427Q

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
1 paper
NM_005612.5
p.L427Q
c.1280T>A
Surrounding Variants
1 paper
NM_005612.5
p.K428E
c.1282A>G
1 paper
NM_005612.5
p.K429N
c.1287A>C
1 paper
NM_005612.5
p.K429N
c.1287A>T
1 paper
NM_005612.5
p.V425fs
c.1273_1274fs
1 paper
NM_005612.5
p.K424T
c.1271A>C
1 paper
NM_005612.5
p.S423L
c.1268C>T
2 papers
NM_005612.5
p.R433Q
c.1298G>A
1 paper
NM_005612.5
p.M420T
c.1259T>C
1 paper
NM_005612.5
p.D436Y
c.1306G>T
1 paper
NM_005612.5
p.N417K
c.1251T>A
1 paper
NM_005612.5
p.N417K
c.1251T>G
6 papers
NM_005612.5
p.L437*
c.1310T>A
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