Varaico: Literature-Extracted Genetic Variants

Gene:CGN

CGN

175 papers

Pfam Domains

Myosin_tail_1aa 791–1155UCSCMyosin tail

Gene Aliases

HGNC Name

cingulin

HGNC Alias Symbol

KIAA1319

Papers
RefSeq ID
Protein change
DNA change
1–12 of 171 variants
5 papers
NM_020770.3
p.R807Q
c.2420G>A
4 papers
NM_020770.3
p.R11W
c.31C>T
4 papers
NM_020770.3
p.E771K
c.2311G>A
3 papers
NM_020770.3
p.R281W
c.841C>T
3 papers
NM_020770.3
p.R737W
c.2209C>T
2 papers
NM_020770.3
p.R41H
c.122G>A
2 papers
NM_020770.3
p.A93T
c.277G>A
2 papers
NM_020770.3
p.R134C
c.400C>T
2 papers
NM_020770.3
p.S248L
c.743C>T
2 papers
NM_020770.3
p.S258G
c.772A>G
2 papers
NM_020770.3
p.R429C
c.1285C>T
2 papers
NM_020770.3
p.R485Q
c.1454G>A
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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."