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.N356fs

c.1066_1067fs

Surrounding Variants

1 paper

NM_001303052.2

p.N356delFs

c.1068delG

1 paper

NM_001303052.2

p.R358L

c.1073G>T

1 paper

NM_001303052.2

p.Q352K

c.1054C>A

1 paper

NM_001303052.2

p.R349M

c.1046G>T

1 paper

NM_001303052.2

p.N345K

c.1035C>G

1 paper

NM_001303052.2

p.N345K

c.1035C>A

2 papers

NM_001303052.2

p.P368P

c.1104C>A

1 paper

NM_001303052.2

p.D378G

c.1133A>G

1 paper

NM_001303052.2

p.C334G

c.1000T>G

1 paper

NM_001303052.2

p.R331S

c.993G>T

1 paper

NM_001303052.2

p.R331S

c.993G>C

1 paper

NM_001303052.2

p.L382L

c.1146C>A