Varaico: Literature-Extracted Genetic Variants

Gene:GDAP2
Variant:p.R432C

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.R432C
c.1294C>T
Surrounding Variants
1 paper
NM_017686.4
p.A423V
c.1268C>T
1 paper
NM_017686.4
p.D414E
c.1242T>G
1 paper
NM_017686.4
p.D414E
c.1242T>A
1 paper
NM_017686.4
p.L409L
c.1227C>T
4 papers
NM_017686.4
p.H400fs
c.1198_1199fs
4 papers
NM_017686.4
p.H400insFs
c.1198_1199insG
4 papers
NM_017686.4
p.V435insFs
c.1305dupG
4 papers
NM_017686.4
p.S436fs
c.1306_1307fs
1 paper
NM_017686.4
p.F440insFs
c.1320dupT
2 papers
NM_017686.4
p.T441delFs
c.1323delG
2 papers
NM_017686.4
p.T442fs
c.1324_1325fs
1 paper
NM_017686.4
p.L448Q
c.1343T>A
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