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.M481I

c.1443G>T

Surrounding Variants

1 paper

NM_015215.4

p.M481I

c.1443G>A

1 paper

NM_015215.4

p.M481I

c.1443G>C

2 papers

NM_015215.4

p.T480A

c.1438A>G

1 paper

NM_015215.4

p.P485insFs

c.1455dupC

1 paper

NM_015215.4

p.T479A

c.1435A>G

1 paper

NM_015215.4

p.P485H

c.1454C>A

1 paper

NM_015215.4

p.D486fs

c.1456_1457fs

1 paper

NM_015215.4

p.R474delFs

c.1422delG

1 paper

NM_015215.4

p.P492_K493insC

c.1474_1478ins3

1 paper

NM_015215.4

p.D471_G472insA

c.1411_1415ins3

1 paper

NM_015215.4

p.L464Q

c.1391T>A

1 paper

NM_015215.4

p.L464_T468delFs

c.1392_1404del13