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.L479fs

c.1435_1436fs

Surrounding Variants

9 papers

NM_001127392.3

p.L479V

c.1435C>G

1 paper

NM_001127392.3

p.L479R

c.1436T>G

1 paper

NM_001127392.3

p.R478Q

c.1433G>A

5 papers

NM_001127392.3

p.R478P

c.1433G>C

1 paper

NM_001127392.3

p.R478delFs

c.1434delG

1 paper

NM_001127392.3

p.R478fs

c.1432_1433fs

1 paper

NM_001127392.3

p.R478delFs

c.1432delC

1 paper

NM_001127392.3

p.R490S

c.1468C>A

3 papers

NM_001127392.3

p.R490G

c.1468C>G

1 paper

NM_001127392.3

p.K491delFs

c.1472delA

1 paper

NM_001127392.3

p.N465S

c.1394A>G

1 paper

NM_001127392.3

p.T463Splc

c.1389-2A>T