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

1–12 of 319 variants

6 papers

NM_001303052.2

p.G529R

c.1585G>C

6 papers

NM_001303052.2

p.G529R

c.1585G>A

5 papers

NM_015025.4

p.G527R

c.1579G>C

5 papers

NM_015025.4

p.G527R

c.1579G>A

5 papers

NM_001303052.2

p.H560Y

c.1678C>T

4 papers

NM_001303052.2

p.R75*

c.223C>T

4 papers

NM_001303052.2

p.Y197*

c.591C>G

4 papers

NM_001303052.2

p.Y197*

c.591C>A

4 papers

NM_001303052.2

p.R569Q

c.1706G>A

4 papers

NM_015025.4

p.R567Q

c.1700G>A

3 papers

NM_001303052.2

p.M1insFs

c.3dupG

3 papers

NM_001303052.2

p.R18*

c.52C>T