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

1 paper

NM_001127392.3

p.G273insFs

c.817dupG

Surrounding Variants

1 paper

NM_001127392.3

p.K276R

c.827A>G

8 papers

NM_001127392.3

p.S264fs

c.790_791fs

10 papers

NM_001127392.3

p.S264fs

c.790_791fs

1 paper

NM_001127392.3

p.P263P

c.789C>G

13 papers

NM_001127392.3

p.P263insFs

c.789dupC

1 paper

NM_001127392.3

p.S261fs

c.781_782fs

13 papers

NM_001127392.3

p.P263delFs

c.789delC

1 paper

NM_001127392.3

p.S261delFs

c.781delT

1 paper

NM_001127392.3

p.P289L

c.866C>T

1 paper

NM_001127392.3

p.R291*

c.871C>T

1 paper

NM_001127392.3

p.P293L

c.878C>T

1 paper

NM_001127392.3

p.S294_Q300delFs

c.880_898del19