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.G430D

c.1289G>A

Surrounding Variants

2 papers

NM_015215.4

p.G430C

c.1288G>T

1 paper

NM_015215.4

p.D426G

c.1277A>G

1 paper

NM_015215.4

p.H421R

c.1262A>G

1 paper

NM_015215.4

p.A416A

c.1248T>G

3 papers

NM_015215.4

p.A416T

c.1246G>A

1 paper

NM_015215.4

p.T415fs

c.1243_1244fs

1 paper

NM_015215.4

p.P414insFs

c.1242dupC

1 paper

NM_015215.4

p.S450S

c.1350G>A

1 paper

NM_015215.4

p.S454_M455insFs

c.1362_1363insAG

1 paper

NM_015215.4

p.M455insFs

c.1364_1365insAG

1 paper

NM_015215.4

p.E403D

c.1209G>C

1 paper

NM_015215.4

p.E403D

c.1209G>T