Varaico: Literature-Extracted Genetic Variants

Gene:RTL3
Variant:p.M128K

RTL3

33 papers

RefSeq Summary

This gene is a member of a family of gag-related retrotransposon genes. These genes appear to have lost the ability to retrotranspose; however, their open reading frames have remained intact, which ma...

Pfam Domains

DUF4939aa 219–325UCSCDomain of unknown function (DUF4939)
zf-CCHCaa 443–460UCSCZinc knuckle

Gene Aliases

HGNC Name

retrotransposon Gag like 3

HGNC Previous Symbol

ZCCHC5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_152694.3
p.M128K
c.383T>A
Surrounding Variants
1 paper
NM_152694.3
p.H130Q
c.390T>G
1 paper
NM_152694.3
p.H130Q
c.390T>A
1 paper
NM_152694.3
p.R121W
c.361C>T
1 paper
NM_152694.3
p.A142T
c.424G>A
1 paper
NM_152694.3
p.P109Q
c.326C>A
1 paper
NM_152694.3
p.T148I
c.443C>T
1 paper
NM_152694.3
p.Q106Q
c.318G>A
1 paper
NM_152694.3
p.Q159*
c.475C>T
1 paper
NM_152694.3
p.P89T
c.265C>A
1 paper
NM_152694.3
p.E75D
c.225G>T
1 paper
NM_152694.3
p.E75D
c.225G>C
1 paper
NM_152694.3
p.A58D
c.173C>A
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