Varaico: Literature-Extracted Genetic Variants

Gene:CABIN1
Variant:p.S1695I

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.S1695I
c.5084G>T
Surrounding Variants
1 paper
NM_012295.4
p.L1681F
c.5041C>T
1 paper
NM_012295.4
p.G1675E
c.5024G>A
1 paper
NM_012295.4
p.S1715S
c.5145A>G
1 paper
NM_012295.4
p.E1720E
c.5160G>A
2 papers
NM_001201429.2
p.R1681W
c.5041C>T
NM_012295.4
p.R1731W
c.5191C>T
1 paper
NM_012295.4
p.R1747Q
c.5240G>A
1 paper
NM_012295.4
p.D1749N
c.5245G>A
1 paper
NM_012295.4
p.P1760delFs
c.5278delC
1 paper
NM_012295.4
p.P1760fs
c.5278_5279fs
1 paper
NM_012295.4
p.P1781T
c.5341C>A
1 paper
NM_012295.4
p.P1781S
c.5341C>T
1 paper
NM_012295.4
p.R1783C
c.5347C>T
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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."