Varaico: Literature-Extracted Genetic Variants

Gene:CIB2
Variant:p.E83fs

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
2 papers
NM_006383.4
p.E83fs
c.247_248fs
Surrounding Variants
1 paper
NM_006383.4
p.E80*
c.238G>T
1 paper
NM_006383.4
p.L86F
c.256C>T
1 paper
NM_001301224.2
p.L91P
c.272T>C
2 papers
NM_006383.4
p.E83_L86delFs
c.247_257del11
1 paper
NM_001271889.2
p.E18_F29delFs
c.52_86del35
1 paper
NM_006383.4
p.F78V
c.232T>G
1 paper
NM_006383.4
p.A76_A77del2
c.226_230del6
1 paper
NM_006383.4
p.F88S
c.263T>C
4 papers
NM_006383.4
p.V75M
c.223G>A
28 papers
NM_006383.4
p.F91S
c.272T>C
1 paper
NM_006383.4
p.R73W
c.217A>T
1 paper
NM_006383.4
p.D93A
c.278A>C
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