Varaico: Literature-Extracted Genetic Variants

Gene:CCDC6
Variant:p.Q67K

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
1 paper
NM_005436.5
p.Q67K
c.199C>A
Surrounding Variants
1 paper
NM_005436.5
p.L66L
c.198G>T
1 paper
NM_005436.5
p.Q67ins1
c.200_201insTCC
1 paper
NM_005436.5
p.L66Q
c.197T>A
2 papers
NM_005436.5
p.S65L
c.194C>T
1 paper
NM_005436.5
p.E69Q
c.205G>C
1 paper
NM_005436.5
p.E69K
c.205G>A
1 paper
NM_005436.5
p.L59_A64delFs
c.176_191del16
3 papers
NM_005436.5
p.A64P
c.190G>C
1 paper
NM_005436.5
p.A64T
c.190G>A
1 paper
NM_005436.5
p.N70I
c.209A>T
1 paper
NM_005436.5
p.K71E
c.211A>G
1 paper
NM_005436.5
p.R62R
c.186C>T
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