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.G499E

c.1496G>A

Surrounding Variants

1 paper

NM_015215.4

p.G500C

c.1498G>T

1 paper

NM_015215.4

p.G500A

c.1499G>C

1 paper

NM_015215.4

p.E506K

c.1516G>A

1 paper

NM_015215.4

p.P492_K493insC

c.1474_1478ins3

1 paper

NM_015215.4

p.D486fs

c.1456_1457fs

1 paper

NM_015215.4

p.P485H

c.1454C>A

1 paper

NM_015215.4

p.P485insFs

c.1455dupC

1 paper

NM_015215.4

p.S515*

c.1544C>A

1 paper

NM_015215.4

p.M481I

c.1443G>A

1 paper

NM_015215.4

p.M481I

c.1443G>C

1 paper

NM_015215.4

p.M481I

c.1443G>T

2 papers

NM_015215.4

p.T480A

c.1438A>G