Varaico: Literature-Extracted Genetic Variants

Gene:CCDC6
Variant:p.F54S

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.F54S
c.161T>C
Surrounding Variants
1 paper
NM_005436.5
p.R55C
c.163C>T
1 paper
NM_005436.5
p.R55H
c.164G>A
1 paper
NM_005436.5
p.P53A
c.157C>G
2 papers
NM_005436.5
p.S52S
c.156G>A
1 paper
NM_005436.5
p.L56L
c.168G>A
1 paper
NM_005436.5
p.L56delFs
c.167delA
1 paper
NM_005436.5
p.E57K
c.169G>A
1 paper
NM_005436.5
p.I51I
c.153C>T
1 paper
NM_005436.5
p.E57E
c.171G>A
3 papers
NM_005436.5
p.E58*
c.172G>T
1 paper
NM_005436.5
p.V50A
c.149T>C
1 paper
NM_005436.5
p.L59F
c.175C>T
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