Varaico: Literature-Extracted Genetic Variants

Gene:CAMTA2
Variant:p.S123F

CAMTA2

46 papers

RefSeq Summary

The protein encoded by this gene is a member of the calmodulin-binding transcription activator protein family. Members of this family share a common domain structure that consists of a transcription a...

Pfam Domains

CG-1aa 36–149UCSCCG-1 domain
TIGaa 533–614UCSCIPT/TIG domain

Gene Aliases

HGNC Name

calmodulin binding transcription activator 2

HGNC Alias Symbol

KIAA0909

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_015099.4
p.S123F
c.368C>T
Surrounding Variants
1 paper
NM_015099.4
p.Y116*
c.348T>G
1 paper
NM_015099.4
p.Y116*
c.348T>A
1 paper
NM_015099.4
p.L136P
c.407T>C
1 paper
NM_015099.4
p.P139P
c.417T>G
1 paper
NM_015099.4
p.R171Q
c.512G>A
1 paper
NM_015099.4
p.W176*
c.527G>A
1 paper
NM_015099.4
p.W91*
c.273G>A
1 paper
NM_015099.4
p.W91*
c.272G>A
1 paper
NM_015099.4
p.G199E
c.596G>A
1 paper
NM_015099.4
p.R223*
c.667C>T
1 paper
NM_015099.4
p.C229fs
c.685_686fs
1 paper
NM_015099.4
p.C242C
c.726C>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."