Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MYRFL

Variant:p.G18E

MYRFL

12q15 (UCSC)GTEx

31 papers

Pfam Domains

NDT80_PhoGaa 257–404UCSCNDT80 / PhoG like DNA-binding family

Peptidase_S74aa 451–513UCSCChaperone of endosialidase

MYRF_ICAaa 530–565UCSCMyelin regulatory factor ICA domain

MRF_C2aa 768–909UCSCMyelin gene regulatory factor C-terminal domain 2

Gene Aliases

HGNC Name

myelin regulatory factor like

HGNC Previous Symbols

C12orf15; C12orf28

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr12:69855286 G>A

NM_182530.3

p.G18E

c.53G>A

exact variant not in gnomAD33 overlapping SVs

Surrounding Variants

chr12:69855360 T>G

NM_182530.3

p.L43V

c.127T>G

Exome: 0.0% (AC=125, hom=3)Genome: 0.0% (AC=10, hom=0)33 overlapping SVs

UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."