Varaico: Literature-Extracted Genetic Variants

Gene:CCDC6
Variant:p.V50A

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.V50A
c.149T>C
Surrounding Variants
1 paper
NM_005436.5
p.I51I
c.153C>T
1 paper
NM_005436.5
p.G48fs
c.142_143fs
1 paper
NM_005436.5
p.G48delFs
c.143delC
1 paper
NM_005436.5
p.G48insFs
c.143_144insA
2 papers
NM_005436.5
p.S52S
c.156G>A
1 paper
NM_005436.5
p.G48S
c.142G>A
1 paper
NM_005436.5
p.G48fs
c.142_143fs
1 paper
NM_005436.5
p.P53A
c.157C>G
1 paper
NM_005436.5
p.G47E
c.140G>A
1 paper
NM_005436.5
p.G47W
c.139G>T
1 paper
NM_005436.5
p.S46S
c.138G>A
1 paper
NM_005436.5
p.F54S
c.161T>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."