Varaico: Literature-Extracted Genetic Variants

Gene:CIB1
Variant:p.Q42*

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.Q42*
c.124C>T
Surrounding Variants
1 paper
NM_006384.4
p.Q42L
c.125A>T
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.V45L
c.133G>T
1 paper
NM_006384.4
p.E46K
c.136G>A
1 paper
NM_006384.4
p.F34L
c.102T>A
1 paper
NM_006384.4
p.R50Q
c.149G>A
1 paper
NM_006384.4
p.A30P
c.88G>C
1 paper
NM_006384.4
p.E63Q
c.187G>C
1 paper
NM_006384.4
p.P81T
c.241C>A
1 paper
NM_006384.4
p.A82T
c.244G>A
1 paper
NM_006384.4
p.K83fs
c.247_248fs
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."