Varaico: Literature-Extracted Genetic Variants

Gene:MYT1L
Variant:p.V300I

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.V300I
c.898G>A
Surrounding Variants
1 paper
NM_001303052.2
p.M297V
c.889A>G
1 paper
NM_001303052.2
p.S290insFs
c.868_869insTG
1 paper
NM_001303052.2
p.M289R
c.866T>G
1 paper
NM_001303052.2
p.E317D
c.951G>T
1 paper
NM_001303052.2
p.E317D
c.951G>C
1 paper
NM_001303052.2
p.D282N
c.844G>A
1 paper
NM_001303052.2
p.D319N
c.955G>A
1 paper
NM_001303052.2
p.E321D
c.963G>T
1 paper
NM_001303052.2
p.E321D
c.963G>C
1 paper
NM_001303052.2
p.E278fs
c.832_833fs
1 paper
NM_001303052.2
p.G273S
c.817G>A
1 paper
NM_001303052.2
p.H272N
c.814C>A
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