Varaico: Literature-Extracted Genetic Variants

Gene:CIB2
Variant:p.D116D

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.D116D
c.348C>T
Surrounding Variants
1 paper
NM_006383.4
p.F117I
c.349T>A
1 paper
NM_006383.4
p.D120D
c.360C>T
1 paper
NM_006383.4
p.N121fs
c.361_362fs
1 paper
NM_006383.4
p.F122F
c.366C>T
15 papers
NM_006383.4
p.I123T
c.368T>C
1 paper
NM_001301224.2
p.K130fs
c.388_389fs
1 paper
NM_006383.4
p.D127N
c.379G>A
1 paper
NM_006383.4
p.D127G
c.380A>G
1 paper
NM_006383.4
p.D127A
c.380A>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.A133A
c.399C>T
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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."