Varaico: Literature-Extracted Genetic Variants

Gene:DRAM2
Variant:p.L262F

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.L262F
c.784C>T
Surrounding Variants
1 paper
NM_001349884.2
p.S263delFs
c.789delG
1 paper
NM_001349884.2
p.T249I
c.746C>T
1 paper
NM_001349884.2
p.D248delFs
c.744delG
4 papers
NM_001349884.2
p.L246P
c.737T>C
2 papers
NM_001349884.2
p.R236_V237ins0
c.707_709dupGGG
1 paper
NM_001349884.2
p.S234_R236delFs
c.700_706del7
1 paper
NM_001349884.2
p.R236W
c.706C>T
1 paper
NM_001349884.2
p.K232K
c.696A>G
2 papers
NM_001349884.2
p.Q231_K232Splc
c.693+2T>A
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
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