Varaico: Literature-Extracted Genetic Variants

Gene:CABIN1
Variant:p.S325R

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
3 papers
NM_012295.4
p.S325R
c.975C>G
Surrounding Variants
3 papers
NM_012295.4
p.S325R
c.975C>A
3 papers
NM_012295.4
p.S325R
c.973A>C
1 paper
NM_012295.4
p.V333L
c.997G>C
1 paper
NM_012295.4
p.V333L
c.997G>T
1 paper
NM_012295.4
p.Q304*
c.910C>T
1 paper
NM_012295.4
p.S301L
c.902C>T
1 paper
NM_012295.4
p.R291C
c.871C>T
1 paper
NM_012295.4
p.P290L
c.869C>T
1 paper
NM_012295.4
p.P289S
c.865C>T
1 paper
NM_012295.4
p.C287Y
c.860G>A
1 paper
NM_012295.4
p.T286_E288del3
c.856_863del9
1 paper
NM_012295.4
p.M280I
c.840G>A
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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."