Varaico: Literature-Extracted Genetic Variants

Gene:CIB1
Variant:p.D154A

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
1 paper
NM_006384.4
p.D154A
c.461A>C
Surrounding Variants
1 paper
NM_006384.4
p.I153M
c.459C>G
1 paper
NM_006384.4
p.T142_L152ins3
c.424_456dup33
1 paper
NM_006384.4
p.I156fs
c.466_467fs
1 paper
NM_006384.4
p.D127E
c.381C>G
1 paper
NM_006384.4
p.D127E
c.381C>A
2 papers
NM_006384.4
p.D127N
c.379G>A
1 paper
NM_006384.4
p.L123S
c.368T>C
1 paper
NM_006384.4
p.D116D
c.348C>T
1 paper
NM_006384.4
p.D116Splc
c.347-5T>G
1 paper
NM_006384.4
p.E172*
c.514G>T
1 paper
NM_006384.4
p.S171insFs
c.513dupT
2 papers
NM_006384.4
p.E172Q
c.514G>C
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