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.D1141Y

c.3421G>T

Surrounding Variants

1 paper

NM_015215.4

p.S1138L

c.3413C>T

3 papers

NM_015215.4

p.R1134H

c.3401G>A

1 paper

NM_015215.4

p.L1163L

c.3487C>T

1 paper

NM_015215.4

p.A1117G

c.3350C>G

6 papers

NM_015215.4

p.A1117V

c.3350C>T

1 paper

NM_015215.4

p.D1169Y

c.3505G>T

1 paper

NM_015215.4

p.E1170D

c.3510G>C

1 paper

NM_015215.4

p.E1170D

c.3510G>T

7 papers

NM_015215.4

p.N1177K

c.3531C>A

7 papers

NM_015215.4

p.N1177K

c.3531C>G

3 papers

NM_015215.4

p.E1186K

c.3556G>A

1 paper

NM_015215.4

p.P1188S

c.3562C>T