Varaico: Literature-Extracted Genetic Variants

Gene:C12orf43
Variant:p.E28K

C12orf43

21 papers

Pfam Domains

CUSTOSaa 1–66UCSCCUSTOS
CUSTOSaa 84–292UCSCCUSTOS

Gene Aliases

HGNC Name

chromosome 12 open reading frame 43

HGNC Alias Symbols

FLJ12448; Custos

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_022895.3
p.E28K
c.82G>A
Surrounding Variants
2 papers
NM_022895.3
p.E28Q
c.82G>C
1 paper
NM_022895.3
p.A29A
c.87G>A
1 paper
NM_022895.3
p.R25G
c.73C>G
1 paper
NM_022895.3
p.E24Q
c.70G>C
1 paper
NM_022895.3
p.R39C
c.115C>T
1 paper
NM_022895.3
p.S9T
c.26G>C
1 paper
NM_022895.3
p.A50S
c.148G>T
1 paper
NM_022895.3
p.Q59H
c.177A>T
1 paper
NM_022895.3
p.Q59H
c.177A>C
1 paper
NM_022895.3
p.R63Splc
c.189-3T>C
1 paper
NM_022895.3
p.A84S
c.250G>T
1 paper
NM_022895.3
p.L90L
c.268C>T
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