Varaico: Literature-Extracted Genetic Variants

Gene:CCDC6
Variant:p.H154Q

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.H154Q
c.462T>A
Surrounding Variants
1 paper
NM_005436.5
p.E155K
c.463G>A
2 papers
NM_005436.5
p.H154Y
c.460C>T
1 paper
NM_005436.5
p.E155insFs
c.464_465insT
1 paper
NM_005436.5
p.K156E
c.466A>G
3 papers
NM_005436.5
p.E155del1
c.463_464delCTC
1 paper
NM_005436.5
p.K156N
c.468A>T
4 papers
NM_005436.5
p.A157T
c.469G>A
1 paper
NM_005436.5
p.E160A
c.479A>C
1 paper
NM_005436.5
p.H162N
c.484C>A
2 papers
NM_005436.5
p.L163F
c.487C>T
1 paper
NM_005436.5
p.L163insFs
c.488_489insA
1 paper
NM_005436.5
p.Q165*
c.493C>T
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