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.C823S

c.2467T>A

Surrounding Variants

1 paper

NM_015215.4

p.C823S

c.2468G>C

1 paper

NM_015215.4

p.Q816fs

c.2446_2447fs

1 paper

NM_015215.4

p.Q816delFs

c.2446delC

1 paper

NM_015215.4

p.A812A

c.2436C>T

1 paper

NM_015215.4

p.S834delFs

c.2500_2501delAG

1 paper

NM_015215.4

p.S834fs

c.2500_2501fs

2 papers

NM_015215.4

p.R811W

c.2431C>T

1 paper

NM_015215.4

p.A810V

c.2429C>T

1 paper

NM_015215.4

p.A810S

c.2428G>T

1 paper

NM_015215.4

p.S836S

c.2508G>A

1 paper

NM_015215.4

p.D808D

c.2424C>T

1 paper

NM_015215.4

p.S806fs

c.2416_2417fs