Varaico: Literature-Extracted Genetic Variants

Gene:CIB3
Variant:p.Q12*

CIB3

22 papers

RefSeq Summary

This gene product shares a high degree of sequence similarity with DNA-dependent protein kinase catalytic subunit-interacting protein 2 in human and mouse, and like them may bind the catalytic subunit...

Pfam Domains

EF-hand_7aa 105–174UCSCEF-hand domain pair

Gene Aliases

HGNC Name

calcium and integrin binding family member 3

HGNC Alias Symbol

KIP3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_054113.4
p.Q12*
c.34C>T
Surrounding Variants
1 paper
NM_054113.4
p.M1K
c.2T>A
1 paper
NM_054113.4
p.D18H
c.52G>C
1 paper
NM_054113.4
p.R33H
c.98G>A
1 paper
NM_054113.4
p.P50P
c.150C>T
1 paper
NM_054113.4
p.E57K
c.169G>A
1 paper
NM_054113.4
p.K66_D67Splc
c.198+1G>T
1 paper
NM_054113.4
p.G84V
c.251G>T
1 paper
NM_054113.4
p.T87I
c.260C>T
1 paper
NM_054113.4
p.F91S
c.272T>C
1 paper
NM_054113.4
p.D105N
c.313G>A
1 paper
NM_054113.4
p.I114F
c.340A>T
1 paper
NM_054113.4
p.D127N
c.379G>A
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