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.N190K

c.570T>A

Surrounding Variants

1 paper

NM_001303052.2

p.N190K

c.570T>G

1 paper

NM_001303052.2

p.D187insFs

c.559dupG

4 papers

NM_001303052.2

p.Y197*

c.591C>G

4 papers

NM_001303052.2

p.Y197*

c.591C>A

1 paper

NM_001303052.2

p.L200P

c.599T>C

1 paper

NM_001303052.2

p.R179Q

c.536G>A

2 papers

NM_001303052.2

p.R179*

c.535C>T

1 paper

NM_001303052.2

p.A202delFs

c.606delG

1 paper

NM_001303052.2

p.K203fs

c.607_608fs

1 paper

NM_001303052.2

p.G209R

c.625G>C

1 paper

NM_001303052.2

p.G209S

c.625G>A

1 paper

NM_001303052.2

p.R218Q

c.653G>A