Varaico: Literature-Extracted Genetic Variants

Gene:DRAM2
Variant:p.G57R

DRAM2

56 papers

RefSeq Summary

The protein encoded by this gene binds microtubule-associated protein 1 light chain 3 and is required for autophagy. Defects in this gene are a cause of retinal dystrophy. In addition, two microRNAs (...

Pfam Domains

Frag1aa 7–233UCSCFrag1/DRAM/Sfk1/Cwh43P N-terminal domain

Gene Aliases

HGNC Name

DNA damage regulated autophagy modulator 2

HGNC Previous Symbol

TMEM77

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_001349884.2
p.G57R
c.169G>A
Surrounding Variants
3 papers
NM_001349884.2
p.G57R
c.169G>C
1 paper
NM_001349884.2
p.C54delFs
c.161delC
1 paper
NM_001349884.2
p.K53_C54ins1
c.159_160insTAA
6 papers
NM_001349884.2
p.G47delFs
c.140delC
4 papers
NM_001349884.2
p.G47fs
c.139_140fs
2 papers
NM_001349884.2
p.A64_L66del3
c.190_197del9
3 papers
NM_001349884.2
p.S44N
c.131G>A
1 paper
NM_001349884.2
p.S44Splc
c.132-6T>C
1 paper
NM_001349884.2
p.T70T
c.210C>A
4 papers
NM_001349884.2
p.R74H
c.221G>A
1 paper
NM_001349884.2
p.Y75del1
c.223_224delATA
3 papers
NM_001349884.2
p.V73_Y75del0
c.217_225del9
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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."