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.I1404fs

c.4210_4211fs

Surrounding Variants

1 paper

NM_015215.4

p.I1404delFs

c.4210delA

1 paper

NM_015215.4

p.A1407G

c.4220C>G

5 papers

NM_015215.4

p.R1411*

c.4231C>T

1 paper

NM_015215.4

p.R1411Q

c.4232G>A

1 paper

NM_015215.4

p.E1421V

c.4262A>T

1 paper

NM_015215.4

p.D1429E

c.4287C>A

1 paper

NM_015215.4

p.D1429E

c.4287C>G

1 paper

NM_015215.4

p.L1450F

c.4348C>T

1 paper

NM_015215.4

p.P1451H

c.4352C>A

1 paper

NM_015215.4

p.Q1455K

c.4363C>A

1 paper

NM_015215.4

p.R1457*

c.4369C>T

1 paper

NM_015215.4

p.N1461S

c.4382A>G