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.M401I

c.1203G>T

Surrounding Variants

1 paper

NM_015215.4

p.M401I

c.1203G>A

1 paper

NM_015215.4

p.M401I

c.1203G>C

1 paper

NM_015215.4

p.E403D

c.1209G>C

1 paper

NM_015215.4

p.E403D

c.1209G>T

1 paper

NM_015215.4

p.T398M

c.1193C>T

1 paper

NM_015215.4

p.G391E

c.1172G>A

1 paper

NM_015215.4

p.G391W

c.1171G>T

1 paper

NM_015215.4

p.P414insFs

c.1242dupC

1 paper

NM_015215.4

p.V389A

c.1166T>C

1 paper

NM_015215.4

p.T415fs

c.1243_1244fs

3 papers

NM_015215.4

p.A416T

c.1246G>A

1 paper

NM_015215.4

p.A416A

c.1248T>G