Varaico: Literature-Extracted Genetic Variants

Gene:CCDC6
Variant:p.L94V

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.L94V
c.280C>G
Surrounding Variants
1 paper
NM_005436.5
p.L94L
c.280C>T
1 paper
NM_005436.5
p.L94R
c.281T>G
1 paper
NM_005436.5
p.D93insFs
c.278_279insT
1 paper
NM_005436.5
p.R92S
c.274C>A
1 paper
NM_005436.5
p.A97T
c.289G>A
1 paper
NM_005436.5
p.E89V
c.266A>T
1 paper
NM_005436.5
p.T100S
c.298A>T
1 paper
NM_005436.5
p.L87P
c.260T>C
1 paper
NM_005436.5
p.L87M
c.259C>A
1 paper
NM_005436.5
p.I101_Q102Splc
c.303+3G>C
1 paper
NM_005436.5
p.C84R
c.250T>C
1 paper
NM_005436.5
p.K83R
c.248A>G
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."