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.R463G

c.1387A>G

Surrounding Variants

1 paper

NM_001303052.2

p.M462I

c.1386G>T

1 paper

NM_001303052.2

p.M462I

c.1386G>C

1 paper

NM_001303052.2

p.M462I

c.1386G>A

1 paper

NM_001303052.2

p.S464fs

c.1390_1391fs

1 paper

NM_001303052.2

p.S464L

c.1391C>T

2 papers

NM_001303052.2

p.D460N

c.1378G>A

1 paper

NM_001303052.2

p.S464_D467delFs

c.1390_1399del10

1 paper

NM_001303052.2

p.Y465_P470del6

c.1393_1409del18

1 paper

NM_001303052.2

p.A453T

c.1357G>A

2 papers

NM_001303052.2

p.P474S

c.1420C>T

1 paper

NM_001303052.2

p.P474P

c.1422C>T

2 papers

NM_001303052.2

p.K451T

c.1352A>C