Varaico: Literature-Extracted Genetic Variants

Gene:CAMTA1
Variant:p.S714I

CAMTA1

319 papers

RefSeq Summary

The protein encoded by this gene contains a CG1 DNA-binding domain, a transcription factor immunoglobulin domain, ankyrin repeats, and calmodulin-binding IQ motifs. The encoded protein is thought to b...

Pfam Domains

CG-1aa 69–182UCSCCG-1 domain
Ank_2aa 93–201UCSCAnkyrin repeats (3 copies)
IQaa 512–527UCSCIQ calmodulin-binding motif
TIGaa 872–952UCSCIPT/TIG domain

Gene Aliases

HGNC Name

calmodulin binding transcription activator 1

HGNC Alias Symbol

KIAA0833

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_015215.4
p.S714I
c.2141G>T
Surrounding Variants
1 paper
NM_015215.4
p.E716K
c.2146G>A
1 paper
NM_015215.4
p.L710L
c.2128C>T
1 paper
NM_015215.4
p.G708V
c.2123G>T
5 papers
NM_015215.4
p.S707C
c.2120C>G
1 paper
NM_015215.4
p.R728Q
c.2183G>A
1 paper
NM_015215.4
p.G700W
c.2098G>T
1 paper
NM_015215.4
p.A698G
c.2093C>G
1 paper
NM_015215.4
p.A730A
c.2190C>G
1 paper
NM_015215.4
p.A697V
c.2090C>T
1 paper
NM_015215.4
p.S695S
c.2085G>A
1 paper
NM_015215.4
p.V733I
c.2197G>A
1 paper
NM_015215.4
p.E693D
c.2079G>C
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