Varaico: Literature-Extracted Genetic Variants

Gene:CABIN1
Variant:p.M1_I2Splc

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.M1_I2Splc
c.3+5G>A
Surrounding Variants
1 paper
NM_012295.4
p.M1I
c.3G>A
1 paper
NM_012295.4
p.A5T
c.13G>A
1 paper
NM_012295.4
p.A5G
c.14C>G
1 paper
NM_012295.4
p.A5V
c.14C>T
1 paper
NM_012295.4
p.A6P
c.16G>C
1 paper
NM_012295.4
p.A9P
c.25G>C
1 paper
NM_012295.4
p.T12_I13delFs
c.36_37delCA
2 papers
NM_012295.4
p.D15E
c.45T>A
2 papers
NM_012295.4
p.D15E
c.45T>G
1 paper
NM_012295.4
p.S23G
c.67A>G
1 paper
NM_012295.4
p.K29*
c.85A>T
1 paper
NM_012295.4
p.A31S
c.91G>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."