Varaico: Literature-Extracted Genetic Variants

Gene:DRAM2
Variant:p.W2*

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.W2*
c.6G>A
Surrounding Variants
1 paper
NM_001349884.2
p.W2*
c.5G>A
2 papers
NM_001349884.2
p.M1I
c.3G>A
5 papers
NM_001349884.2
p.W3del1
c.7_8delCCA
1 paper
NM_001349884.2
p.L11_P12insFs
c.33_34ins16
2 papers
NM_001349884.2
p.L8_F10del3
c.22_29del9
2 papers
NM_001349884.2
p.V16A
c.47T>C
3 papers
NM_001349884.2
p.A22del1
c.64_65delAGC
1 paper
NM_001349884.2
p.F23S
c.68T>C
1 paper
NM_001349884.2
p.F23insFs
c.69dupC
4 papers
NM_001349884.2
p.Y27H
c.79T>C
1 paper
NM_001349884.2
p.A30T
c.88G>A
1 paper
NM_001349884.2
p.V31E
c.92T>A
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