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.D410D

c.1230C>T

Surrounding Variants

1 paper

NM_001303052.2

p.D410N

c.1228G>A

1 paper

NM_001303052.2

p.E407_R408Fs

c.1221_1222delinsTFs

1 paper

NM_001303052.2

p.E407fs

c.1219_1220fs

1 paper

NM_001303052.2

p.A400_E402del3

c.1198_1205del9

1 paper

NM_001303052.2

p.S398N

c.1193G>A

1 paper

NM_001303052.2

p.V395A

c.1184T>C

1 paper

NM_001303052.2

p.K428R

c.1283A>G

3 papers

NM_001303052.2

p.R392Q

c.1175G>A

1 paper

NM_001303052.2

p.P391L

c.1172C>T

2 papers

NM_001303052.2

p.L433fs

c.1297_1298fs

2 papers

NM_001303052.2

p.L433delFs

c.1298delA

1 paper

NM_001303052.2

p.R384Q

c.1151G>A