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.S1606G

c.4816A>G

Surrounding Variants

2 papers

NM_015215.4

p.R1614W

c.4840C>T

1 paper

NM_015215.4

p.R1614Q

c.4841G>A

1 paper

NM_015215.4

p.R1594Q

c.4781G>A

4 papers

NM_015215.4

p.R1594*

c.4780C>T

1 paper

NM_015215.4

p.T1619M

c.4856C>T

2 papers

NM_015215.4

p.Q1591*

c.4771C>T

1 paper

NM_015215.4

p.K1589fs

c.4765_4766fs

4 papers

NM_015215.4

p.K1589fs

c.4765_4766fs

2 papers

NM_015215.4

p.V1623A

c.4868T>C

1 paper

NM_015215.4

p.Q1624*

c.4870C>T

1 paper

NM_015215.4

p.Q1624Q

c.4872A>G

1 paper

NM_015215.4

p.Q1587*

c.4759C>T