Varaico: Literature-Extracted Genetic Variants

Gene:REST
Variant:p.K520R

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.K520R
c.1559A>G
Surrounding Variants
1 paper
NM_005612.5
p.V534L
c.1600G>C
1 paper
NM_005612.5
p.V534L
c.1600G>T
1 paper
NM_005612.5
p.D536V
c.1607A>T
1 paper
NM_005612.5
p.V504M
c.1510G>A
1 paper
NM_005612.5
p.S539P
c.1615T>C
1 paper
NM_005612.5
p.K500fs
c.1498_1499fs
3 papers
NM_005612.5
p.E498fs
c.1492_1493fs
3 papers
NM_005612.5
p.E498delFs
c.1493_1494delAG
1 paper
NM_005612.5
p.K546R
c.1637A>G
1 paper
NM_005612.5
p.K546M
c.1637A>T
1 paper
NM_005612.5
p.K546N
c.1638G>C
1 paper
NM_005612.5
p.K546N
c.1638G>T
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