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.S294_Q300delFs

c.880_898del19

Surrounding Variants

1 paper

NM_001127392.3

p.P293L

c.878C>T

1 paper

NM_001127392.3

p.R291*

c.871C>T

1 paper

NM_001127392.3

p.P296L

c.887C>T

1 paper

NM_001127392.3

p.P289L

c.866C>T

1 paper

NM_001127392.3

p.P298L

c.893C>T

2 papers

NM_001127392.3

p.Q300*

c.898C>T

1 paper

NM_001127392.3

p.P302S

c.904C>T

1 paper

NM_001127392.3

p.K276R

c.827A>G

1 paper

NM_001127392.3

p.G273insFs

c.817dupG

4 papers

NM_001127392.3

p.A315V

c.944C>T

3 papers

NM_001127392.3

p.R316C

c.946C>T

2 papers

NM_001127392.3

p.W322*

c.965G>A