Varaico: Literature-Extracted Genetic Variants

Gene:MYT1L
Variant:p.R558C

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
2 papers
NM_001303052.2
p.R558C
c.1672C>T
Surrounding Variants
1 paper
NM_001303052.2
p.G559R
c.1675G>C
1 paper
NM_001303052.2
p.G559R
c.1675G>A
1 paper
NM_001303052.2
p.T556M
c.1667C>T
7 papers
NM_001303052.2
p.H560Y
c.1678C>T
NM_015025.4
p.H558Y
c.1672C>T
1 paper
NM_015025.4
p.C553R
c.1657T>C
1 paper
NM_015025.4
p.V559D
c.1676T>A
1 paper
NM_015025.4
p.R563G
c.1687A>G
1 paper
NM_001303052.2
p.R565K
c.1694G>A
1 paper
NM_015025.4
p.C548R
c.1642T>C
1 paper
NM_001303052.2
p.L548L
c.1644C>T
1 paper
NM_001303052.2
p.L548P
c.1643T>C
1 paper
NM_001303052.2
p.R569*
c.1705C>T
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