Varaico: Literature-Extracted Genetic Variants

Gene:CIB1
Variant:p.D18V

CIB1

80 papers

RefSeq Summary

This gene encodes a member of the EF-hand domain-containing calcium-binding superfamily. The encoded protein interacts with many other proteins, including the platelet integrin alpha-IIb-beta-3, DNA-d...

Gene Aliases

HGNC Name

calcium and integrin binding 1

HGNC Alias Symbols

SIP2-28; KIP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_006384.4
p.D18V
c.53A>T
Surrounding Variants
5 papers
NM_006384.4
p.Q17_D18Splc
c.52-2A>G
1 paper
NM_006384.4
p.S4fs
c.10_11fs
1 paper
NM_006384.4
p.G2G
c.6G>C
1 paper
NM_006384.4
p.G2A
c.5G>C
1 paper
NM_006384.4
p.M1insFs
c.1dupA
1 paper
NM_006384.4
p.M1insFs
c.1_2insG
1 paper
NM_006384.4
p.A30P
c.88G>C
1 paper
NM_006384.4
p.F34L
c.102T>A
1 paper
NM_006384.4
p.E41V
c.122A>T
1 paper
NM_006384.4
p.E41A
c.122A>C
1 paper
NM_006384.4
p.Q42*
c.124C>T
1 paper
NM_006384.4
p.Q42L
c.125A>T
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