Varaico: Literature-Extracted Genetic Variants

Gene:DRAM2
Variant:p.Q231_K232Splc

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
2 papers
NM_001349884.2
p.Q231_K232Splc
c.693+2T>A
Surrounding Variants
1 paper
NM_001349884.2
p.Q231H
c.693G>C
1 paper
NM_001349884.2
p.R228H
c.683G>A
1 paper
NM_001349884.2
p.R228C
c.682C>T
2 papers
NM_001349884.2
p.Y226insFs
c.677dupA
3 papers
NM_001349884.2
p.F217_T225del9
c.649_674del27
2 papers
NM_001349884.2
p.Y226fs
c.676_677fs
1 paper
NM_001349884.2
p.L224Q
c.671T>A
1 paper
NM_001349884.2
p.S218F
c.653C>T
1 paper
NM_001349884.2
p.W213*
c.639G>A
1 paper
NM_001349884.2
p.W213*
c.638G>A
2 papers
NM_001349884.2
p.A210insFs
c.628_629insAG
1 paper
NM_001349884.2
p.A210fs
c.628_629fs
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