Varaico: Literature-Extracted Genetic Variants

Gene:CCDC6
Variant:p.E227K

CCDC6

692 papers

RefSeq Summary

This gene encodes a coiled-coil domain-containing protein. The encoded protein is ubiquitously expressed and may function as a tumor suppressor. A chromosomal rearrangement resulting in the expression...

Pfam Domains

DUF2046aa 42–337UCSCUncharacterized conserved protein H4 (DUF2046)

Gene Aliases

HGNC Name

coiled-coil domain containing 6

HGNC Previous Symbols

TST1; D10S170

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_005436.5
p.E227K
c.679G>A
Surrounding Variants
2 papers
NM_005436.5
p.A226V
c.677C>T
1 paper
NM_005436.5
p.A226S
c.676G>T
1 paper
NM_005436.5
p.K223R
c.668A>G
1 paper
NM_005436.5
p.D222H
c.664G>C
2 papers
NM_005436.5
p.D222N
c.664G>A
1 paper
NM_005436.5
p.K219Q
c.655A>C
1 paper
NM_005436.5
p.L217L
c.651C>T
1 paper
NM_005436.5
p.L217P
c.650T>C
1 paper
NM_005436.5
p.R216H
c.647G>A
1 paper
NM_005436.5
p.R216C
c.646C>T
1 paper
NM_005436.5
p.V214L
c.640G>C
1 paper
NM_005436.5
p.A212V
c.635C>T
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