Varaico: Literature-Extracted Genetic Variants

Gene:CIB2
Variant:p.L135insFs

CIB2

127 papers

RefSeq Summary

The protein encoded by this gene is similar to that of KIP/CIB, calcineurin B, and calmodulin. The encoded protein is a calcium-binding regulatory protein that interacts with DNA-dependent protein kin...

Gene Aliases

HGNC Name

calcium and integrin binding family member 2

HGNC Previous Symbols

DFNB48; USH1J

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006383.4
p.L135insFs
c.404_405insA
Surrounding Variants
1 paper
NM_006383.4
p.L135F
c.403C>T
1 paper
NM_006383.4
p.R134W
c.400C>T
1 paper
NM_006383.4
p.A133A
c.399C>T
1 paper
NM_006383.4
p.E139*
c.415G>T
1 paper
NM_006383.4
p.E139Q
c.415G>C
1 paper
NM_006383.4
p.L140R
c.419T>G
1 paper
NM_001271889.2
p.L91P
c.272T>C
1 paper
NM_006383.4
p.D127E
c.381C>G
1 paper
NM_006383.4
p.D127E
c.381C>A
1 paper
NM_006383.4
p.D127G
c.380A>G
1 paper
NM_006383.4
p.D127A
c.380A>C
1 paper
NM_001271888.2
p.E100fs
c.298_299fs
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."