Varaico: Literature-Extracted Genetic Variants

Gene:NAXD
Variant:p.C316_N317insFs

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_001242881.2
p.C316_N317insFs
c.948_949insTT
Surrounding Variants
1 paper
NM_001242882.2
p.Q297*
c.889C>T
7 papers
NM_001242882.2
p.R308C
c.922C>T
1 paper
NM_001242882.2
p.S282S
c.846C>T
5 papers
NM_001242882.2
p.I316_A317insFs
c.948_949insTT
3 papers
NM_001242882.2
p.A317fs
c.949_950fs
1 paper
NM_018210.4
p.V316_K317insFs
c.948_949insTT
5 papers
NM_001242882.2
p.G280Splc
c.839+1G>T
1 paper
NM_001242882.2
p.V267fs
c.799_800fs
1 paper
NM_001242882.2
p.V265_L266insFs
c.794_798dup5
1 paper
NM_001242882.2
p.G261C
c.781G>T
2 papers
NM_001242882.2
p.L259R
c.776T>G
1 paper
NM_018210.4
p.R269G
c.805A>G
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