Varaico: Literature-Extracted Genetic Variants

Gene:CCDC6
Variant:p.P430R

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.P430R
c.1289C>G
Surrounding Variants
1 paper
NM_005436.5
p.S431A
c.1291T>G
1 paper
NM_005436.5
p.N433T
c.1298A>C
1 paper
NM_005436.5
p.N433_T434insFs
c.1299_1300insA
3 papers
NM_005436.5
p.T427A
c.1279A>G
2 papers
NM_005436.5
p.T434A
c.1300A>G
1 paper
NM_005436.5
p.T434K
c.1301C>A
1 paper
NM_005436.5
p.P426A
c.1276C>G
1 paper
NM_005436.5
p.R425Q
c.1274G>A
1 paper
NM_005436.5
p.Q435H
c.1305G>T
1 paper
NM_005436.5
p.Q435H
c.1305G>C
1 paper
NM_005436.5
p.Q435Q
c.1305G>A
1 paper
NM_005436.5
p.T436I
c.1307C>T
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