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.N1461S

c.4382A>G

Surrounding Variants

1 paper

NM_015215.4

p.P1463T

c.4387C>A

1 paper

NM_015215.4

p.P1466S

c.4396C>T

1 paper

NM_015215.4

p.T1470N

c.4409C>A

2 papers

NM_015215.4

p.V1479I

c.4435G>A

1 paper

NM_015215.4

p.V1479_S1480insC

c.4435_4439ins3

1 paper

NM_015215.4

p.A1493V

c.4478C>T

1 paper

NM_015215.4

p.S1496L

c.4487C>T

1 paper

NM_015215.4

p.E1497K

c.4489G>A

1 paper

NM_015215.4

p.E1497Q

c.4489G>C

1 paper

NM_015215.4

p.S1500N

c.4499G>A

1 paper

NM_015215.4

p.E1505K

c.4513G>A

1 paper

NM_015215.4

p.E1510G

c.4529A>G