Varaico: Literature-Extracted Genetic Variants

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.D254insFs

c.760dupG

Surrounding Variants

1 paper

NM_001303052.2

p.D254_S255delFs

c.761_764del4

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.V257F

c.769G>T

1 paper

NM_001303052.2

p.S250I

c.749G>T

1 paper

NM_001303052.2

p.E248Q

c.742G>C

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.E241K

c.721G>A

1 paper

NM_001303052.2

p.A269S

c.805G>T

1 paper

NM_001303052.2

p.Q270fs

c.808_809fs

1 paper

NM_001303052.2

p.Q270delFs

c.808delG