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.Y297fs

c.889_890fs

Surrounding Variants

3 papers

NM_015215.4

p.Y297fs

c.889_890fs

1 paper

NM_015215.4

p.Y297C

c.890A>G

1 paper

NM_015215.4

p.Y297*

c.891C>A

1 paper

NM_015215.4

p.Y297*

c.891C>G

1 paper

NM_015215.4

p.Y297Y

c.891C>T

1 paper

NM_015215.4

p.G298R

c.892G>A

1 paper

NM_015215.4

p.G296fs

c.886_887fs

1 paper

NM_015215.4

p.G295fs

c.883_884fs

2 papers

NM_015215.4

p.T294_G295insFs

c.882_883insCG

5 papers

NM_015215.4

p.T294delFs

c.882delA

1 paper

NM_015215.4

p.R293Q

c.878G>A

1 paper

NM_015215.4

p.P292fs

c.874_875fs