Varaico: Literature-Extracted Genetic Variants

Gene:CCDC6
Variant:p.R197W

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.R197W
c.589C>T
Surrounding Variants
1 paper
NM_005436.5
p.E198*
c.592G>T
1 paper
NM_005436.5
p.L195*
c.584T>A
1 paper
NM_005436.5
p.L202F
c.604C>T
3 papers
NM_005436.5
p.E203K
c.607G>A
1 paper
NM_005436.5
p.T205P
c.613A>C
1 paper
NM_005436.5
p.L206fs
c.616_617fs
1 paper
NM_005436.5
p.Q210delFs
c.628delG
2 papers
NM_005436.5
p.A212P
c.634G>C
1 paper
NM_005436.5
p.A212V
c.635C>T
1 paper
NM_005436.5
p.V214L
c.640G>C
1 paper
NM_005436.5
p.R216C
c.646C>T
1 paper
NM_005436.5
p.R216H
c.647G>A
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