Varaico: Literature-Extracted Genetic Variants

Gene:CIB2
Variant:p.K29R

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.K29R
c.86A>G
Surrounding Variants
2 papers
NM_006383.4
p.K29Splc
c.87-3A>G
5 papers
NM_006383.4
p.R33*
c.97C>T
1 paper
NM_006383.4
p.R33Q
c.98G>A
1 paper
NM_006383.4
p.F34S
c.101T>C
1 paper
NM_006383.4
p.E36D
c.108G>T
1 paper
NM_006383.4
p.E36D
c.108G>C
1 paper
NM_006383.4
p.A38_V42delFs
c.112_124del13
1 paper
NM_006383.4
p.M44I
c.132G>A
1 paper
NM_006383.4
p.P50_I51insFs
c.150_151insA
1 paper
NM_006383.4
p.H53H
c.159C>T
1 paper
NM_006383.4
p.M56insFs
c.166_167insC
1 paper
NM_006383.4
p.M56delFs
c.167delA
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