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

1–12 of 526 variants

7 papers

NM_015215.4

p.N1177K

c.3531C>A

7 papers

NM_015215.4

p.N1177K

c.3531C>G

6 papers

NM_015215.4

p.A1117V

c.3350C>T

6 papers

NM_015215.4

p.T1336I

c.4007C>T

5 papers

NM_015215.4

p.T294delFs

c.882delA

5 papers

NM_015215.4

p.S707C

c.2120C>G

5 papers

NM_015215.4

p.R1411*

c.4231C>T

4 papers

NM_015215.4

p.S652L

c.1955C>T

4 papers

NM_015215.4

p.A1195_H1198delFs

c.3585_3592del8

4 papers

NM_015215.4

p.N1218T

c.3653A>C

4 papers

NM_015215.4

p.R1541*

c.4621C>T

4 papers

NM_015215.4

p.K1589fs

c.4765_4766fs