Varaico: Literature-Extracted Genetic Variants

Gene:GDAP2

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
1–12 of 51 variants
9 papers
NM_017686.4
p.Q316*
c.946C>T
5 papers
NM_017686.4
p.R253*
c.757C>T
4 papers
NM_017686.4
p.H400insFs
c.1198_1199insG
4 papers
NM_017686.4
p.H400fs
c.1198_1199fs
4 papers
NM_017686.4
p.V435insFs
c.1305dupG
4 papers
NM_017686.4
p.S436fs
c.1306_1307fs
3 papers
NM_017686.4
p.P45delFs
c.134delG
3 papers
NM_017686.4
p.R123Q
c.368G>A
3 papers
NM_017686.4
p.P235L
c.704C>T
2 papers
NM_017686.4
p.P45fs
c.133_134fs
2 papers
NM_017686.4
p.T441delFs
c.1323delG
2 papers
NM_017686.4
p.T442fs
c.1324_1325fs
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."