Varaico: Literature-Extracted Genetic Variants

Gene:CCDC69
Variant:p.K162K

CCDC69

29 papers

Pfam Domains

MTUS1_CCDC69_CC1aa 49–137UCSCMTUS1/CCDC69 family first coiled-coil domain
MTUS1_CCDC69_CC2aa 171–242UCSCMTUS1/CCDC69 family second coiled-coil domain

Gene Aliases

HGNC Name

coiled-coil domain containing 69

HGNC Alias Symbols

FLJ13705; DKFZP434C171

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_015621.3
p.K162K
c.486A>G
Surrounding Variants
1 paper
NM_015621.3
p.R158*
c.472C>T
1 paper
NM_015621.3
p.G168delFs
c.504delC
1 paper
NM_015621.3
p.Q172*
c.514C>T
1 paper
NM_015621.3
p.E175D
c.525G>T
1 paper
NM_015621.3
p.E175D
c.525G>C
1 paper
NM_015621.3
p.R191H
c.572G>A
2 papers
NM_015621.3
p.R197K
c.590G>A
1 paper
NM_015621.3
p.R198W
c.592C>T
1 paper
NM_015621.3
p.Q131delFs
c.391delG
1 paper
NM_015621.3
p.S122C
c.365C>G
1 paper
NM_015621.3
p.L119F
c.355C>T
2 papers
NM_015621.3
p.L108P
c.323T>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."