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.P71T

c.211C>A

Surrounding Variants

1 paper

NM_001303052.2

p.P71fs

c.211_212fs

4 papers

NM_001303052.2

p.R75*

c.223C>T

1 paper

NM_001303052.2

p.R75Q

c.224G>A

1 paper

NM_001303052.2

p.K76E

c.226A>G

1 paper

NM_001303052.2

p.P77T

c.229C>A

1 paper

NM_001303052.2

p.T63A

c.187A>G

1 paper

NM_001303052.2

p.A79V

c.236C>T

1 paper

NM_001303052.2

p.R61T

c.182G>C

1 paper

NM_001303052.2

p.K60E

c.178A>G

1 paper

NM_001303052.2

p.K59*

c.175A>T

1 paper

NM_001303052.2

p.G54_C55del1

c.161_163delAAC

1 paper

NM_001303052.2

p.V52_Y53del1

c.155_157delATA