Varaico: Literature-Extracted Genetic Variants

Gene:CCDC57
Variant:p.R676*

CCDC57

44 papers

Gene Aliases

HGNC Name

coiled-coil domain containing 57

HGNC Alias Symbols

FLJ00130; FLJ23754

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001394669.1
p.R676*
c.2026C>T
Surrounding Variants
1 paper
NM_001394669.1
p.Q650*
c.1948C>T
1 paper
NM_001394669.1
p.V649_Q650delins
c.1947_1948delinsTT
1 paper
NM_001394669.1
p.A689V
c.2066C>T
1 paper
NM_001394669.1
p.G745W
c.2233G>T
1 paper
NM_001394669.1
p.P618S
c.1852C>T
1 paper
NM_001394669.1
p.S616C
c.1847C>G
1 paper
NM_001394669.1
p.E601A
c.1802A>C
1 paper
NM_001394669.1
p.R532*
c.1594C>T
2 papers
NM_001394669.1
p.S519G
c.1555A>G
1 paper
NM_001394669.1
p.R506T
c.1517G>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."