Varaico: Literature-Extracted Genetic Variants

Gene:CCDC6
Variant:p.G42S

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.G42S
c.124G>A
Surrounding Variants
2 papers
NM_005436.5
p.G43S
c.127G>A
1 paper
NM_005436.5
p.G40G
c.120C>T
1 paper
NM_005436.5
p.G39delFs
c.117delT
1 paper
NM_005436.5
p.G44A
c.131G>C
1 paper
NM_005436.5
p.G39E
c.116G>A
1 paper
NM_005436.5
p.G42_G44del0
c.126_131del6
1 paper
NM_005436.5
p.G42_G44del3
c.124_131del9
2 papers
NM_005436.5
p.K45N
c.135G>C
1 paper
NM_005436.5
p.K45K
c.135G>A
1 paper
NM_005436.5
p.G38E
c.113G>A
1 paper
NM_005436.5
p.S46P
c.136T>C
1 paper
NM_005436.5
p.S46S
c.138G>A
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