Varaico: Literature-Extracted Genetic Variants

Gene:MYT1L
Variant:p.R18*

MYT1L

197 papers

RefSeq Summary

This gene encodes a member of the zinc finger superfamily of transcription factors whose expression, thus far, has been found only in neuronal tissues. The encoded protein belongs to a novel class of ...

Pfam Domains

zf-C2HCaa 30–58UCSCZinc finger, C2HC type
zf-C2HCaa 505–533UCSCZinc finger, C2HC type
zf-C2HCaa 549–577UCSCZinc finger, C2HC type
MYT1aa 621–872UCSCMyelin transcription factor 1
zf-C2HCaa 904–932UCSCZinc finger, C2HC type
zf-C2HCaa 953–981UCSCZinc finger, C2HC type

Gene Aliases

HGNC Name

myelin transcription factor 1 like

HGNC Alias Symbols

KIAA1106; NZF1; ZC2HC4B; ZC2H2C2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_001303052.2
p.R18*
c.52C>T
Surrounding Variants
3 papers
NM_001303052.2
p.R18Q
c.53G>A
1 paper
NM_001303052.2
p.G16W
c.46G>T
1 paper
NM_001303052.2
p.G16R
c.46G>C
1 paper
NM_001303052.2
p.G16R
c.46G>A
1 paper
NM_001303052.2
p.R13P
c.38G>C
1 paper
NM_001303052.2
p.R11insFs
c.33dupC
1 paper
NM_001303052.2
p.R11insFs
c.31dupC
1 paper
NM_001303052.2
p.R11H
c.32G>A
1 paper
NM_001303052.2
p.R9W
c.25C>T
1 paper
NM_001303052.2
p.E6K
c.16G>A
1 paper
NM_001303052.2
p.V3insFs
c.7dupG
1 paper
NM_001303052.2
p.E2insFs
c.5dupA
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