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.K530*

c.1588A>T

Surrounding Variants

2 papers

NM_015215.4

p.E531Q

c.1591G>C

1 paper

NM_015215.4

p.K533R

c.1598A>G

1 paper

NM_015215.4

p.T534delFs

c.1602delC

1 paper

NM_015215.4

p.E535fs

c.1603_1604fs

1 paper

NM_015215.4

p.F524L

c.1572T>A

1 paper

NM_015215.4

p.F524L

c.1572T>G

1 paper

NM_015215.4

p.F524L

c.1570T>C

1 paper

NM_015215.4

p.S538T

c.1612T>A

1 paper

NM_015215.4

p.S538F

c.1613C>T

1 paper

NM_015215.4

p.F539F

c.1617C>T

2 papers

NM_015215.4

p.R520Q

c.1559G>A

1 paper

NM_015215.4

p.R520W

c.1558C>T