Varaico: Literature-Extracted Genetic Variants

Gene:CIB2
Variant:p.A108V

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.A108V
c.323C>T
Surrounding Variants
1 paper
NM_001271888.2
p.K64N
c.192G>C
1 paper
NM_001301224.2
p.Y115C
c.344A>G
4 papers
NM_006383.4
p.Y110*
c.330T>G
4 papers
NM_006383.4
p.Y110*
c.330T>A
1 paper
NM_006383.4
p.E105fs
c.313_314fs
1 paper
NM_006383.4
p.L106_A111del6
c.316_332del18
1 paper
NM_006383.4
p.R104Q
c.311G>A
1 paper
NM_006383.4
p.R104delFs
c.310delG
3 papers
NM_006383.4
p.R104*
c.310C>T
5 papers
NM_006383.4
p.E100_P103delFs
c.300_309del10
1 paper
NM_001271889.2
p.K64N
c.192G>C
1 paper
NM_006383.4
p.I114F
c.340A>T
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