Varaico: Literature-Extracted Genetic Variants

MYRF

199 papers

RefSeq Summary

This gene encodes a transcription factor that is required for central nervous system myelination and may regulate oligodendrocyte differentiation. It is thought to act by increasing the expression of ...

Pfam Domains

NDT80_PhoGaa 393–540UCSCNDT80 / PhoG like DNA-binding family

Peptidase_S74aa 587–650UCSCChaperone of endosialidase

MYRF_ICAaa 667–702UCSCMyelin regulatory factor ICA domain

MRF_C2aa 1016–1150UCSCMyelin gene regulatory factor C-terminal domain 2

Gene Aliases

HGNC Name

myelin regulatory factor

HGNC Alias Symbols

Ndt80; pqn-47; MRF

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001127392.3

p.F387L

c.1159T>C

Surrounding Variants

9 papers

NM_001127392.3

p.F387S

c.1160T>C

2 papers

NM_001127392.3

p.F387L

c.1161T>A

2 papers

NM_001127392.3

p.F387L

c.1161T>G

1 paper

NM_001127392.3

p.D382G

c.1145A>G

1 paper

NM_001127392.3

p.A381_D382insATC

c.1141_1145ins9

1 paper

NM_001127392.3

p.Y377*

c.1131C>A

2 papers

NM_001127392.3

p.Y377N

c.1129T>A

1 paper

NM_001127392.3

p.K398E

c.1192A>G

1 paper

NM_001127392.3

p.K399E

c.1195A>G

1 paper

NM_001127392.3

p.M374K

c.1121T>A

1 paper

NM_001127392.3

p.N400K

c.1200C>A

1 paper

NM_001127392.3

p.N400K

c.1200C>G