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

4 papers

NM_015215.4

p.N1218T

c.3653A>C

Surrounding Variants

1 paper

NM_015215.4

p.G1210E

c.3629G>A

1 paper

NM_015215.4

p.G1210R

c.3628G>A

1 paper

NM_015215.4

p.G1210R

c.3628G>C

1 paper

NM_015215.4

p.K1209N

c.3627G>C

1 paper

NM_015215.4

p.K1209N

c.3627G>T

3 papers

NM_015215.4

p.K1209R

c.3626A>G

1 paper

NM_015215.4

p.I1207fs

c.3619_3620fs

1 paper

NM_015215.4

p.E1206delFs

c.3617delA

1 paper

NM_015215.4

p.E1200Q

c.3598G>C

1 paper

NM_015215.4

p.H1198Q

c.3594C>A

1 paper

NM_015215.4

p.H1198Q

c.3594C>G

1 paper

NM_015215.4

p.W1197fs

c.3589_3590fs