Varaico: Literature-Extracted Genetic Variants

Gene:CCDC6
Variant:p.K173*

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.K173*
c.517A>T
Surrounding Variants
1 paper
NM_005436.5
p.V171insFs
c.512_513ins4
1 paper
NM_005436.5
p.M175V
c.523A>G
1 paper
NM_005436.5
p.F169Y
c.506T>A
1 paper
NM_005436.5
p.E168V
c.503A>T
1 paper
NM_005436.5
p.E168K
c.502G>A
1 paper
NM_005436.5
p.Q167R
c.500A>G
1 paper
NM_005436.5
p.K180I
c.539A>T
1 paper
NM_005436.5
p.K180N
c.540A>T
1 paper
NM_005436.5
p.K180N
c.540A>C
1 paper
NM_005436.5
p.Q165*
c.493C>T
1 paper
NM_005436.5
p.E164_Q165insFs
c.492_493ins4
1 paper
NM_005436.5
p.L163insFs
c.488_489insA
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