Varaico: Literature-Extracted Genetic Variants

Gene:CCDC6
Variant:p.S17G

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
2 papers
NM_005436.5
p.S17G
c.49A>G
Surrounding Variants
1 paper
NM_005436.5
p.S17T
c.50G>C
1 paper
NM_005436.5
p.S17N
c.50G>A
1 paper
NM_005436.5
p.N16_S17ins16
c.48_49ins48
3 papers
NM_005436.5
p.S18T
c.53G>C
1 paper
NM_005436.5
p.G15fs
c.43_44fs
1 paper
NM_005436.5
p.G14_G15del1
c.42_44delCCC
1 paper
NM_005436.5
p.S20L
c.59C>T
1 paper
NM_005436.5
p.S20S
c.60G>T
1 paper
NM_005436.5
p.G12delFs
c.35delC
1 paper
NM_005436.5
p.A21S
c.61G>T
1 paper
NM_005436.5
p.A13P
c.37G>C
8 papers
NM_005436.5
p.G12V
c.35G>T
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