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.V1318L

c.3952G>C

Surrounding Variants

1 paper

NM_015215.4

p.V1318L

c.3952G>T

1 paper

NM_015215.4

p.W1321*

c.3962G>A

1 paper

NM_015215.4

p.W1321*

c.3963G>A

1 paper

NM_015215.4

p.Q1311*

c.3931C>T

1 paper

NM_015215.4

p.D1325N

c.3973G>A

6 papers

NM_015215.4

p.T1336I

c.4007C>T

1 paper

NM_015215.4

p.P1339R

c.4016C>G

2 papers

NM_015215.4

p.P1289S

c.3865C>T

1 paper

NM_015215.4

p.S1288R

c.3864C>A

1 paper

NM_015215.4

p.S1288R

c.3864C>G

1 paper

NM_015215.4

p.S1288R

c.3862A>C

1 paper

NM_015215.4

p.P1350fs

c.4048_4049fs