Varaico: Literature-Extracted Genetic Variants

Gene:CCDC191
Variant:p.E696D

CCDC191

61 papers

Gene Aliases

HGNC Name

coiled-coil domain containing 191

HGNC Previous Symbol

KIAA1407

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
5 papers
NM_020817.2
p.E696D
c.2088A>C
Surrounding Variants
5 papers
NM_020817.2
p.E696D
c.2088A>T
1 paper
NM_020817.2
p.E683G
c.2048A>G
1 paper
NM_020817.2
p.R673W
c.2017C>T
1 paper
NM_020817.2
p.R668P
c.2003G>C
1 paper
NM_020817.2
p.R668*
c.2002C>T
1 paper
NM_020817.2
p.M721_K722Splc
c.2163+2662G>A
1 paper
NM_020817.2
p.R611T
c.1832G>C
1 paper
NM_020817.2
p.A596S
c.1786G>T
1 paper
NM_020817.2
p.E579K
c.1735G>A
1 paper
NM_020817.2
p.I577V
c.1729A>G
1 paper
NM_020817.2
p.P527L
c.1580C>T
1 paper
NM_020817.2
p.H520Q
c.1560C>G
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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."