Varaico: Literature-Extracted Genetic Variants

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.Q348E

c.1042C>G

Surrounding Variants

1 paper

NM_015215.4

p.S344F

c.1031C>T

1 paper

NM_015215.4

p.E342_V343insFs

c.1026_1027insAA

1 paper

NM_015215.4

p.E342K

c.1024G>A

1 paper

NM_015215.4

p.P359L

c.1076C>T

1 paper

NM_015215.4

p.V360G

c.1079T>G

1 paper

NM_015215.4

p.L335Fs

c.1003delinsGAFs

1 paper

NM_015215.4

p.V334M

c.1000G>A

1 paper

NM_015215.4

p.I362N

c.1085T>A

1 paper

NM_015215.4

p.G365W

c.1093G>T

3 papers

NM_015215.4

p.K329R

c.986A>G

2 papers

NM_015215.4

p.N327N

c.981C>T

1 paper

NM_015215.4

p.P370L

c.1109C>T