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.P883delFs

c.2648delC

Surrounding Variants

2 papers

NM_015215.4

p.Y882_P883insCG

c.2644_2648ins6

1 paper

NM_015215.4

p.P883fs

c.2647_2648fs

1 paper

NM_015215.4

p.W880*

c.2640G>A

1 paper

NM_015215.4

p.W880*

c.2639G>A

1 paper

NM_015215.4

p.M872V

c.2614A>G

1 paper

NM_015215.4

p.E884_G885Splc

c.2652+25C>A

1 paper

NM_015215.4

p.G868V

c.2603G>T

1 paper

NM_015215.4

p.G868R

c.2602G>A

1 paper

NM_015215.4

p.G868R

c.2602G>C

1 paper

NM_015215.4

p.L864V

c.2590C>G

1 paper

NM_015215.4

p.Q858*

c.2572C>T

1 paper

NM_015215.4

p.S856L

c.2567C>T