Varaico: Literature-Extracted Genetic Variants

Gene:CIB2
Variant:p.V146L

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.V146L
c.436G>T
Surrounding Variants
1 paper
NM_006383.4
p.V145E
c.434T>A
1 paper
NM_001271888.2
p.E100_V103delFs
c.300_309del10
1 paper
NM_001271888.2
p.E100fs
c.298_299fs
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.V152F
c.454G>T
1 paper
NM_006383.4
p.E139*
c.415G>T
1 paper
NM_006383.4
p.E139Q
c.415G>C
1 paper
NM_001271889.2
p.C100_V103delFs
c.300_309del10
1 paper
NM_001271888.2
p.I110I
c.330T>A
1 paper
NM_006383.4
p.E155G
c.464A>G
1 paper
NM_006383.4
p.E155A
c.464A>C
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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."