Varaico: Literature-Extracted Genetic Variants

Gene:NAXD
Variant:p.A83T

NAXD

37 papers

Pfam Domains

Carb_kinaseaa 76–338UCSCNAD(P)H-hydrate dehydratase

Gene Aliases

HGNC Name

NAD(P)HX dehydratase

HGNC Previous Symbol

CARKD

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001242882.2
p.A83T
c.247G>A
Surrounding Variants
1 paper
NM_001242882.2
p.C90F
c.269G>T
1 paper
NM_001242882.2
p.A95G
c.284C>G
5 papers
NM_001242882.2
p.P103L
c.308C>T
8 papers
NM_001242882.2
p.I106M
c.318C>G
3 papers
NM_001242882.2
p.L111F
c.331C>T
1 paper
NM_001242882.2
p.S77*
c.230C>A
1 paper
NM_001242882.2
p.S77*
c.230C>G
1 paper
NM_001242882.2
p.Y67fs
c.199_200fs
1 paper
NM_001242882.2
p.D112fs
c.334_335fs
1 paper
NM_001242882.2
p.E119K
c.355G>A
1 paper
NM_001242882.2
p.L130delFs
c.389delT
1 paper
NM_001242882.2
p.D140N
c.418G>A
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