Varaico: Literature-Extracted Genetic Variants

Gene:GDAP2
Variant:p.E194D

GDAP2

50 papers

Pfam Domains

Macroaa 72–185UCSCMacro domain
CRAL_TRIO_2aa 349–482UCSCDivergent CRAL/TRIO domain

Gene Aliases

HGNC Name

ganglioside induced differentiation associated protein 2

HGNC Alias Symbols

FLJ20142; dJ776P7.1; MACROD3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_017686.4
p.E194D
c.582G>C
Surrounding Variants
1 paper
NM_017686.4
p.E194D
c.582G>T
1 paper
NM_017686.4
p.S163S
c.489T>A
1 paper
NM_017686.4
p.K157N
c.471A>T
1 paper
NM_017686.4
p.K157N
c.471A>C
1 paper
NM_017686.4
p.G130V
c.389G>T
3 papers
NM_017686.4
p.R123Q
c.368G>A
1 paper
NM_017686.4
p.G106Splc
c.317-1G>A
3 papers
NM_017686.4
p.P235L
c.704C>T
5 papers
NM_017686.4
p.R253*
c.757C>T
1 paper
NM_017686.4
p.R256T
c.767G>C
1 paper
NM_017686.4
p.L279R
c.836T>G
1 paper
NM_017686.4
p.D293D
c.879T>C
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