Varaico: Literature-Extracted Genetic Variants

Gene:CCDC6
Variant:p.A22D

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.A22D
c.65C>A
Surrounding Variants
1 paper
NM_005436.5
p.A21A
c.63C>T
1 paper
NM_005436.5
p.M23V
c.67A>G
1 paper
NM_005436.5
p.A21S
c.61G>T
1 paper
NM_005436.5
p.M23I
c.69G>A
1 paper
NM_005436.5
p.S20S
c.60G>T
1 paper
NM_005436.5
p.Q24*
c.70C>T
1 paper
NM_005436.5
p.S20L
c.59C>T
1 paper
NM_005436.5
p.S25P
c.73T>C
1 paper
NM_005436.5
p.S25*
c.74C>A
3 papers
NM_005436.5
p.S18T
c.53G>C
1 paper
NM_005436.5
p.S26S
c.78C>T
2 papers
NM_005436.5
p.S26_C27insFs
c.78_79insT
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