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

Selected Variant

1 paper

NM_004535.3

p.S335fs

c.1003_1004fs

Surrounding Variants

1 paper

NM_004535.3

p.S335delFs

c.1003delA

1 paper

NM_004535.3

p.G330S

c.988G>A

1 paper

NM_004535.3

p.E345D

c.1035G>C

1 paper

NM_004535.3

p.E345D

c.1035G>T

1 paper

NM_004535.3

p.R347G

c.1039C>G

1 paper

NM_004535.3

p.E366K

c.1096G>A

1 paper

NM_004535.3

p.E306del1

c.916_917delGAG

2 papers

NM_004535.3

p.E298*

c.892G>T

1 paper

NM_004535.3

p.E297D

c.891A>C

1 paper

NM_004535.3

p.E297D

c.891A>T

1 paper

NM_004535.3

p.M372I

c.1116G>A

1 paper

NM_004535.3

p.M372I

c.1116G>C