Varaico: Literature-Extracted Genetic Variants

Gene:CCDC28A

CCDC28A

18 papers

RefSeq Summary

This gene encodes a coiled-coil domain containing protein. Although the specific function of this gene has not yet been determined, this gene is a known translocation partner of nucleoporin 98 in acut...

Pfam Domains

CCDC28aa 83–168UCSCCoiled-coil domain-containing protein 28

Gene Aliases

HGNC Name

coiled-coil domain containing 28A

HGNC Previous Symbol

C6orf80

Papers
RefSeq ID
Protein change
DNA change
1–12 of 14 variants
2 papers
NM_015439.3
p.S32N
c.95G>A
1 paper
NM_015439.3
p.R4R
c.12G>A
1 paper
NM_015439.3
p.F14delFs
c.42delT
1 paper
NM_015439.3
p.T19I
c.56C>T
1 paper
NM_015439.3
p.K33K
c.99A>G
1 paper
NM_015439.3
p.S38L
c.113C>T
1 paper
NM_015439.3
p.S42*
c.125C>A
1 paper
NM_015439.3
p.K58R
c.173A>G
1 paper
NM_015439.3
p.Q86R
c.257A>G
1 paper
NM_015439.3
p.A106T
c.316G>A
1 paper
NM_015439.3
p.K146insFs
c.437_438insA
1 paper
NM_015439.3
p.S151F
c.452C>T
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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."