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.N754N

c.2262C>T

Surrounding Variants

1 paper

NM_015215.4

p.S756F

c.2267C>T

1 paper

NM_015215.4

p.G753S

c.2257G>A

1 paper

NM_015215.4

p.N757fs

c.2269_2270fs

1 paper

NM_015215.4

p.G743G

c.2229A>G

1 paper

NM_015215.4

p.G743E

c.2228G>A

1 paper

NM_015215.4

p.S768P

c.2302T>C

1 paper

NM_015215.4

p.F769I

c.2305T>A

1 paper

NM_015215.4

p.V740M

c.2218G>A

2 papers

NM_015215.4

p.Q772*

c.2314C>T

1 paper

NM_015215.4

p.L736H

c.2207T>A

1 paper

NM_015215.4

p.F773L

c.2317T>C

1 paper

NM_015215.4

p.F773Y

c.2318T>A