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

1–12 of 327 variants

13 papers

NM_001127392.3

p.P263insFs

c.789dupC

13 papers

NM_001127392.3

p.P263delFs

c.789delC

13 papers

NM_001127392.3

p.Q403R

c.1208A>G

13 papers

NM_001127392.3

p.V679A

c.2036T>C

10 papers

NM_001127392.3

p.S264fs

c.790_791fs

10 papers

NM_001127392.3

p.Q403H

c.1209G>C

9 papers

NM_001127392.3

p.F387S

c.1160T>C

9 papers

NM_001127392.3

p.Q403H

c.1209G>T

9 papers

NM_001127392.3

p.G435R

c.1303G>A

9 papers

NM_001127392.3

p.L479V

c.1435C>G

9 papers

NM_001127392.3

p.R695H

c.2084G>A

8 papers

NM_001127392.3

p.S264fs

c.790_791fs