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.V303G

c.908T>G

Surrounding Variants

1 paper

NM_015215.4

p.E302A

c.905A>C

1 paper

NM_015215.4

p.Q304R

c.911A>G

1 paper

NM_015215.4

p.E302V

c.905A>T

1 paper

NM_015215.4

p.H305Y

c.913C>T

1 paper

NM_015215.4

p.N306delins

c.916_917delinsGC

1 paper

NM_015215.4

p.N306S

c.917A>G

1 paper

NM_015215.4

p.D307N

c.919G>A

1 paper

NM_015215.4

p.D307A

c.920A>C

1 paper

NM_015215.4

p.G298R

c.892G>A

1 paper

NM_015215.4

p.Y297*

c.891C>A

1 paper

NM_015215.4

p.Y297*

c.891C>G

1 paper

NM_015215.4

p.Y297Y

c.891C>T