Varaico: Literature-Extracted Genetic Variants

Gene:C21orf58
Variant:p.G48C

C21orf58

30 papers

Pfam Domains

DUF4587aa 234–299UCSCDomain of unknown function (DUF4587)

Gene Aliases

HGNC Name

chromosome 21 open reading frame 58

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_058180.5
p.G48C
c.142G>T
Surrounding Variants
2 papers
NM_058180.5
p.N46T
c.137A>C
1 paper
NM_058180.5
p.G39D
c.116G>A
1 paper
NM_058180.5
p.P58P
c.174T>C
1 paper
NM_058180.5
p.R64_E65delFs
c.192_193delCC
1 paper
NM_058180.5
p.G67D
c.200G>A
1 paper
NM_058180.5
p.G115G
c.345A>G
1 paper
NM_058180.5
p.R148_E149Splc
c.444+6C>T
1 paper
NM_058180.5
p.S157F
c.470C>T
1 paper
NM_058180.5
p.G171ins2
c.511_512ins6
1 paper
NM_058180.5
p.P176S
c.526C>T
1 paper
NM_058180.5
p.P185_T186insFs
c.555_556insC
1 paper
NM_058180.5
p.P185_T186ins1
c.555_556insCAC
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