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.S725T

c.2174G>C

Surrounding Variants

1 paper

NM_001127392.3

p.A723T

c.2167G>A

1 paper

NM_001127392.3

p.S721L

c.2162C>T

1 paper

NM_001127392.3

p.G719fs

c.2155_2156fs

1 paper

NM_001127392.3

p.T718delFs

c.2154delC

1 paper

NM_001127392.3

p.S717F

c.2150C>T

1 paper

NM_001127392.3

p.S703S

c.2109C>T

2 papers

NM_001127392.3

p.E700A

c.2099A>C

1 paper

NM_001127392.3

p.E700Q

c.2098G>C

1 paper

NM_001127392.3

p.A727T

c.2179G>A

1 paper

NM_001127392.3

p.G728R

c.2182G>A

1 paper

NM_001127392.3

p.D697A

c.2090A>C

10 papers

NM_001127392.3

p.R695H

c.2084G>A

NM_013279.4

p.R686H

c.2057G>A