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

2 papers

NM_001303052.2

p.R525C

c.1573C>T

Surrounding Variants

2 papers

NM_001303052.2

p.H524Q

c.1572C>G

2 papers

NM_001303052.2

p.H524Q

c.1572C>A

4 papers

NM_001303052.2

p.H524N

c.1570C>A

NM_015025.4

p.H522N

c.1564C>A

1 paper

NM_001303052.2

p.S528delins

c.1582_1584delinsGGG

11 papers

NM_015025.4

p.G527R

c.1579G>C

NM_001303052.2

p.G529R

c.1585G>C

11 papers

NM_015025.4

p.G527R

c.1579G>A

NM_001303052.2

p.G529R

c.1585G>A

1 paper

NM_001303052.2

p.G529A

c.1586G>C

4 papers

NM_001303052.2

p.L520P

c.1559T>C

NM_015025.4

p.L518P

c.1553T>C

1 paper

NM_001303052.2

p.P531L

c.1592C>T

1 paper

NM_001303052.2

p.H516Q

c.1548C>G

1 paper

NM_001303052.2

p.H516Q

c.1548C>A

3 papers

NM_015025.4

p.G511*

c.1531G>T

NM_001303052.2

p.G513*

c.1537G>T