Varaico: Literature-Extracted Genetic Variants

Gene:CABIN1
Variant:p.S803N

CABIN1

282 papers

RefSeq Summary

Calcineurin plays an important role in the T-cell receptor-mediated signal transduction pathway. The protein encoded by this gene binds specifically to the activated form of calcineurin and inhibits c...

Pfam Domains

MEF2_bindingaa 2156–2190UCSCMEF2 binding

Gene Aliases

HGNC Name

calcineurin binding protein 1

HGNC Alias Symbols

KIAA0330; PPP3IN

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_012295.4
p.S803N
c.2408G>A
Surrounding Variants
1 paper
NM_012295.4
p.S805C
c.2413A>T
1 paper
NM_012295.4
p.G815D
c.2444G>A
6 papers
NM_012295.4
p.L816F
c.2446C>T
1 paper
NM_012295.4
p.Q769*
c.2305C>T
1 paper
NM_012295.4
p.E766K
c.2296G>A
1 paper
NM_012295.4
p.R749W
c.2245C>T
4 papers
NM_012295.4
p.P840A
c.2518C>G
2 papers
NM_012295.4
p.R853Q
c.2558G>A
1 paper
NM_012295.4
p.I855F
c.2563A>T
1 paper
NM_012295.4
p.E858G
c.2573A>G
1 paper
NM_012295.4
p.C866fs
c.2596_2597fs
1 paper
NM_012295.4
p.H867Y
c.2599C>T
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."