Varaico: Literature-Extracted Genetic Variants

Gene:CIB2
Variant:p.A102G

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.A102G
c.305C>G
Surrounding Variants
1 paper
NM_006383.4
p.A102S
c.304G>T
1 paper
NM_006383.4
p.S101*
c.302C>A
1 paper
NM_006383.4
p.E100D
c.300G>T
2 papers
NM_006383.4
p.E100fs
c.298_299fs
1 paper
NM_006383.4
p.E100D
c.300G>C
3 papers
NM_006383.4
p.R104*
c.310C>T
5 papers
NM_006383.4
p.E100_P103delFs
c.300_309del10
1 paper
NM_006383.4
p.R104Q
c.311G>A
1 paper
NM_006383.4
p.R104delFs
c.310delG
16 papers
NM_006383.4
p.C99W
c.297C>G
1 paper
NM_001301224.2
p.F100_L103delFs
c.300_309del10
1 paper
NM_006383.4
p.E105fs
c.313_314fs
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