Varaico: Literature-Extracted Genetic Variants

Gene:KIAA2012
Variant:p.R1000H

KIAA2012

44 papers

Pfam Domains

DUF4670aa 624–1137UCSCDomain of unknown function (DUF4670)

Gene Aliases

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001277372.4
p.R1000H
c.2999G>A
Surrounding Variants
1 paper
NM_001277372.4
p.K968R
c.2903A>G
1 paper
NM_001277372.4
p.A958V
c.2873C>T
1 paper
NM_001277372.4
p.R1028W
c.3082C>T
2 papers
NM_001277372.4
p.R1048*
c.3142C>T
1 paper
NM_001277372.4
p.T878insFs
c.2632_2633insA
1 paper
NM_001277372.4
p.T846fs
c.2536_2537fs
1 paper
NM_001277372.4
p.T846insFs
c.2536dupA
1 paper
NM_001277372.4
p.K841fs
c.2521_2522fs
2 papers
NM_001277372.4
p.K839insFs
c.2515dupA
1 paper
NM_001277372.4
p.A838fs
c.2512_2513fs
1 paper
NM_001277372.4
p.G831Splc
c.2491+7G>C
1 paper
NM_001277372.4
p.E817*
c.2449G>T
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