Varaico: Literature-Extracted Genetic Variants

Gene:CGN
Variant:p.Q456H

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
Selected Variant
1 paper
NM_020770.3
p.Q456H
c.1368G>T
Surrounding Variants
1 paper
NM_020770.3
p.Q456H
c.1368G>C
1 paper
NM_020770.3
p.L465S
c.1394T>C
1 paper
NM_020770.3
p.E447K
c.1339G>A
2 papers
NM_020770.3
p.R429C
c.1285C>T
2 papers
NM_020770.3
p.R485Q
c.1454G>A
1 paper
NM_020770.3
p.E496K
c.1486G>A
1 paper
NM_020770.3
p.E516E
c.1548A>G
1 paper
NM_020770.3
p.K414Q
c.1240A>C
1 paper
NM_020770.3
p.E402V
c.1205A>T
1 paper
NM_020770.3
p.E398K
c.1192G>A
1 paper
NM_020770.3
p.R394Q
c.1181G>A
1 paper
NM_020770.3
p.P387S
c.1159C>T
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