Varaico: Literature-Extracted Genetic Variants

Gene:CIB2
Variant:p.R66R

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.R66R
c.198G>A
Surrounding Variants
1 paper
NM_006383.4
p.R66_E67Splc
c.198+1G>A
16 papers
NM_006383.4
p.R66W
c.196C>T
20 papers
NM_006383.4
p.E64D
c.192G>T
19 papers
NM_006383.4
p.E64D
c.192G>C
1 paper
NM_006383.4
p.E64E
c.192G>A
1 paper
NM_006383.4
p.M62insFs
c.185_186insA
1 paper
NM_006383.4
p.M56delFs
c.167delA
1 paper
NM_006383.4
p.M56insFs
c.166_167insC
1 paper
NM_006383.4
p.H53H
c.159C>T
1 paper
NM_006383.4
p.P50_I51insFs
c.150_151insA
1 paper
NM_006383.4
p.M44I
c.132G>A
1 paper
NM_006383.4
p.A38_V42delFs
c.112_124del13
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