Varaico: Literature-Extracted Genetic Variants

Gene:CGNL1
Variant:p.R1177Q

CGNL1

94 papers

RefSeq Summary

This gene encodes a member of the cingulin family. The encoded protein localizes to both adherens and tight cell-cell junctions and mediates junction assembly and maintenance by regulating the activit...

Pfam Domains

Myosin_tail_1aa 586–1036UCSCMyosin tail
Myosin_tail_1aa 1014–1257UCSCMyosin tail

Gene Aliases

HGNC Name

cingulin like 1

HGNC Alias Symbols

FLJ14957; JACOP; KIAA1749; PCING

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_032866.5
p.R1177Q
c.3530G>A
Surrounding Variants
1 paper
NM_032866.5
p.E1180Q
c.3538G>C
1 paper
NM_032866.5
p.R1181W
c.3541C>T
1 paper
NM_032866.5
p.D1241N
c.3721G>A
2 papers
NM_032866.5
p.I1155I
c.3465C>T
1 paper
NM_032866.5
p.Q1125_N1126Splc
c.3376-55C>G
1 paper
NM_032866.5
p.G1281E
c.3842G>A
1 paper
NM_032866.5
p.S1282I
c.3845G>T
1 paper
NM_032866.5
p.D1295N
c.3883G>A
1 paper
NM_032866.5
p.V1298V
c.3894C>G
1 paper
NM_032866.5
p.S1121C
c.3362C>G
1 paper
NM_032866.5
p.E1108V
c.3323A>T
1 paper
NM_032866.5
p.L1101V
c.3301T>G
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