Varaico: Literature-Extracted Genetic Variants

Gene:DRAM2
Variant:p.R74H

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
4 papers
NM_001349884.2
p.R74H
c.221G>A
Surrounding Variants
1 paper
NM_001349884.2
p.Y75del1
c.223_224delATA
3 papers
NM_001349884.2
p.V73_Y75del0
c.217_225del9
1 paper
NM_001349884.2
p.Q77H
c.231A>T
1 paper
NM_001349884.2
p.Q77H
c.231A>C
1 paper
NM_001349884.2
p.T70T
c.210C>A
1 paper
NM_001349884.2
p.S82R
c.244A>C
1 paper
NM_001349884.2
p.S82N
c.245G>A
1 paper
NM_001349884.2
p.S82R
c.246T>G
1 paper
NM_001349884.2
p.S82R
c.246T>A
1 paper
NM_001349884.2
p.E84Q
c.250G>C
1 paper
NM_001349884.2
p.K93*
c.277A>T
2 papers
NM_001349884.2
p.G95V
c.284G>T
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