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.C1557F

c.4670G>T

Surrounding Variants

1 paper

NM_015215.4

p.Q1547H

c.4641A>C

1 paper

NM_015215.4

p.Q1547H

c.4641A>T

1 paper

NM_015215.4

p.Q1547*

c.4639C>T

4 papers

NM_015215.4

p.R1541*

c.4621C>T

1 paper

NM_015215.4

p.Y1538C

c.4613A>G

1 paper

NM_015215.4

p.Y1525C

c.4574A>G

1 paper

NM_015215.4

p.H1519Y

c.4555C>T

1 paper

NM_015215.4

p.S1517fs

c.4549_4550fs

1 paper

NM_015215.4

p.S1517_D1518delFs

c.4549_4552del4

1 paper

NM_015215.4

p.Q1513*

c.4537C>T

1 paper

NM_015215.4

p.E1510G

c.4529A>G

1 paper

NM_015215.4

p.E1505K

c.4513G>A