Varaico: Literature-Extracted Genetic Variants

Gene:CIB2

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
1–12 of 122 variants
28 papers
NM_006383.4
p.F91S
c.272T>C
20 papers
NM_006383.4
p.E64D
c.192G>T
19 papers
NM_006383.4
p.E64D
c.192G>C
17 papers
NM_006383.4
p.R186W
c.556C>T
16 papers
NM_006383.4
p.R66W
c.196C>T
16 papers
NM_006383.4
p.C99W
c.297C>G
15 papers
NM_006383.4
p.I123T
c.368T>C
5 papers
NM_006383.4
p.R33*
c.97C>T
5 papers
NM_006383.4
p.E100_P103delFs
c.300_309del10
4 papers
NM_006383.4
p.V75M
c.223G>A
4 papers
NM_006383.4
p.Y110*
c.330T>G
4 papers
NM_006383.4
p.Y110*
c.330T>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."