Varaico: Literature-Extracted Genetic Variants

MYT1

131 papers

RefSeq Summary

The protein encoded by this gene is a member of a family of neural specific, zinc finger-containing DNA-binding proteins. The protein binds to the promoter regions of proteolipid proteins of the centr...

Pfam Domains

zf-C2HCaa 29–57UCSCZinc finger, C2HC type

zf-C2HCaa 441–469UCSCZinc finger, C2HC type

zf-C2HCaa 485–513UCSCZinc finger, C2HC type

MYT1aa 560–616UCSCMyelin transcription factor 1

MYT1aa 615–791UCSCMyelin transcription factor 1

zf-C2HCaa 799–827UCSCZinc finger, C2HC type

Gene Aliases

HGNC Name

myelin transcription factor 1

HGNC Previous Symbol

PLPB1

Papers

RefSeq ID

Protein change

DNA change

1–12 of 139 variants

5 papers

NM_004535.3

p.R9*

c.25C>T

5 papers

NM_004535.3

p.S105L

c.314C>T

4 papers

NM_004535.3

p.S108L

c.323C>T

3 papers

NM_004535.3

p.E226K

c.676G>A

3 papers

NM_004535.3

p.S537C

c.1610C>G

2 papers

NM_004535.3

p.M1insFs

c.1dupA

2 papers

NM_004535.3

p.M1insFs

c.3dupG

2 papers

NM_004535.3

p.Q52insFs

c.155_156insG

2 papers

NM_004535.3

p.P78T

c.232C>A

2 papers

NM_004535.3

p.D96delFs

c.287delA

2 papers

NM_004535.3

p.G155_S156insG

c.463_467ins3

2 papers

NM_004535.3

p.E287del1

c.859_860delGAG