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.S1351L

c.4052C>T

Surrounding Variants

1 paper

NM_015215.4

p.P1350L

c.4049C>T

1 paper

NM_015215.4

p.P1350_S1351delins

c.4049_4051delinsGTG

2 papers

NM_015215.4

p.P1350_S1351Fs

c.4049_4051delinsGTGCTGCFs

1 paper

NM_015215.4

p.P1350fs

c.4048_4049fs

1 paper

NM_015215.4

p.P1355S

c.4063C>T

3 papers

NM_015215.4

p.R1356W

c.4066C>T

1 paper

NM_015215.4

p.R1356Q

c.4067G>A

1 paper

NM_015215.4

p.P1339R

c.4016C>G

6 papers

NM_015215.4

p.T1336I

c.4007C>T

3 papers

NM_015215.4

p.E1368delFs

c.4103_4104delAG

1 paper

NM_015215.4

p.E1368fs

c.4102_4103fs

1 paper

NM_015215.4

p.E1368fs

c.4102_4103fs