Varaico: Literature-Extracted Genetic Variants

Gene:MYT1L
Variant:p.H272N

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
1 paper
NM_001303052.2
p.H272N
c.814C>A
Surrounding Variants
1 paper
NM_001303052.2
p.G273S
c.817G>A
1 paper
NM_001303052.2
p.Q270delFs
c.808delG
1 paper
NM_001303052.2
p.Q270fs
c.808_809fs
1 paper
NM_001303052.2
p.A269S
c.805G>T
1 paper
NM_001303052.2
p.E278fs
c.832_833fs
1 paper
NM_001303052.2
p.V262L
c.784G>T
1 paper
NM_001303052.2
p.V262L
c.784G>C
1 paper
NM_001303052.2
p.D282N
c.844G>A
1 paper
NM_001303052.2
p.V257F
c.769G>T
1 paper
NM_001303052.2
p.D256Y
c.766G>T
1 paper
NM_001303052.2
p.D256N
c.766G>A
1 paper
NM_001303052.2
p.D254_S255delFs
c.761_764del4
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