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.G640fs

c.1918_1919fs

Surrounding Variants

1 paper

NM_015215.4

p.G640G

c.1920C>T

1 paper

NM_015215.4

p.G639E

c.1916G>A

1 paper

NM_015215.4

p.S638_G639delFs

c.1914_1915delTG

1 paper

NM_015215.4

p.D637G

c.1910A>G

1 paper

NM_015215.4

p.V643M

c.1927G>A

1 paper

NM_015215.4

p.T646T

c.1938G>A

1 paper

NM_015215.4

p.H632Y

c.1894C>T

1 paper

NM_015215.4

p.T649M

c.1946C>T

2 papers

NM_015215.4

p.N630delFs

c.1889delA

1 paper

NM_015215.4

p.E628K

c.1882G>A

1 paper

NM_015215.4

p.S652*

c.1955C>A

4 papers

NM_015215.4

p.S652L

c.1955C>T