Varaico: Literature-Extracted Genetic Variants

Gene:GDAP2
Variant:p.H400insFs

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
4 papers
NM_017686.4
p.H400insFs
c.1198_1199insG
Surrounding Variants
4 papers
NM_017686.4
p.H400fs
c.1198_1199fs
1 paper
NM_017686.4
p.L409L
c.1227C>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.A423V
c.1268C>T
1 paper
NM_017686.4
p.R432C
c.1294C>T
1 paper
NM_017686.4
p.D366Y
c.1096G>T
1 paper
NM_017686.4
p.A335P
c.1003G>C
1 paper
NM_017686.4
p.N318K
c.954T>G
1 paper
NM_017686.4
p.N318K
c.954T>A
4 papers
NM_017686.4
p.V435insFs
c.1305dupG
4 papers
NM_017686.4
p.S436fs
c.1306_1307fs
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."