Varaico: Literature-Extracted Genetic Variants

Gene:MYRF
Variant:p.Q403H

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
9 papers
NM_001127392.3
p.Q403H
c.1209G>T
Surrounding Variants
10 papers
NM_001127392.3
p.Q403H
c.1209G>C
13 papers
NM_001127392.3
p.Q403R
c.1208A>G
1 paper
NM_001127392.3
p.Q403L
c.1208A>T
1 paper
NM_001127392.3
p.V404A
c.1211T>C
1 paper
NM_001127392.3
p.F402L
c.1206C>A
1 paper
NM_001127392.3
p.F402L
c.1206C>G
1 paper
NM_001127392.3
p.F402L
c.1204T>C
1 paper
NM_001127392.3
p.N400K
c.1200C>A
1 paper
NM_001127392.3
p.N400K
c.1200C>G
1 paper
NM_001127392.3
p.Y407Y
c.1221C>T
2 papers
NM_001127392.3
p.I408V
c.1222A>G
1 paper
NM_001127392.3
p.K399E
c.1195A>G
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