Varaico: Literature-Extracted Genetic Variants

Gene:MATR3
Variant:p.H244Y

MATR3

352 papers

RefSeq Summary

This gene encodes a nuclear matrix protein, which is proposed to stabilize certain messenger RNA species. Mutations of this gene are associated with distal myopathy 2, which often includes vocal cord ...

Pfam Domains

RRM_5aa 41–155UCSCRNA recognition motif. (a.k.a. RRM, RBD, or RNP domain)

Gene Aliases

HGNC Name

matrin 3

HGNC Previous Symbol

MPD2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_018834.6
p.H244Y
c.730C>T
Surrounding Variants
1 paper
NM_018834.6
p.D247A
c.740A>C
1 paper
NM_018834.6
p.D247E
c.741C>A
1 paper
NM_018834.6
p.D247E
c.741C>G
1 paper
NM_018834.6
p.E249A
c.746A>C
1 paper
NM_018834.6
p.E249D
c.747G>C
1 paper
NM_018834.6
p.F236F
c.708T>C
1 paper
NM_018834.6
p.G254G
c.762A>T
1 paper
NM_018834.6
p.R255H
c.764G>A
1 paper
NM_018834.6
p.R229S
c.687G>C
1 paper
NM_018834.6
p.R229S
c.687G>T
1 paper
NM_018834.6
p.E228K
c.682G>A
1 paper
NM_018834.6
p.L260I
c.778T>A
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