Varaico: Literature-Extracted Genetic Variants

Gene:CIB2
Variant:p.S181Splc

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.S181Splc
c.542+20C>T
Surrounding Variants
1 paper
NM_006383.4
p.S181Splc
c.542+2T>G
1 paper
NM_006383.4
p.K175Q
c.523A>C
1 paper
NM_006383.4
p.M172I
c.516G>A
1 paper
NM_001271888.2
p.M129T
c.386T>C
1 paper
NM_006383.4
p.D168A
c.503A>C
1 paper
NM_006383.4
p.A167D
c.500C>A
1 paper
NM_006383.4
p.F166_A167insC
c.496_500ins3
1 paper
NM_006383.4
p.G165V
c.494G>T
1 paper
NM_006383.4
p.G162R
c.484G>C
1 paper
NM_006383.4
p.G162S
c.484G>A
1 paper
NM_006383.4
p.A156insFs
c.467_468insT
1 paper
NM_006383.4
p.E155G
c.464A>G
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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."