Varaico: Literature-Extracted Genetic Variants

Gene:DRAM2
Variant:p.L142F

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
1 paper
NM_001349884.2
p.L142F
c.424C>T
Surrounding Variants
1 paper
NM_001349884.2
p.Y135C
c.404A>G
1 paper
NM_001349884.2
p.F129C
c.386T>G
1 paper
NM_001349884.2
p.R159_L160insTAA
c.475_479ins9
4 papers
NM_001349884.2
p.H121L
c.362A>T
1 paper
NM_001349884.2
p.A120T
c.358G>A
9 papers
NM_001349884.2
p.W165*
c.494G>A
7 papers
NM_001349884.2
p.W165*
c.495G>A
1 paper
NM_001349884.2
p.G167R
c.499G>C
1 paper
NM_001349884.2
p.G167R
c.499G>A
1 paper
NM_001349884.2
p.S169R
c.505A>C
1 paper
NM_001349884.2
p.S169R
c.507T>G
1 paper
NM_001349884.2
p.S169R
c.507T>A
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