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.M692L

c.2074A>C

Surrounding Variants

1 paper

NM_015215.4

p.M692L

c.2074A>T

1 paper

NM_015215.4

p.T691I

c.2072C>T

1 paper

NM_015215.4

p.E693D

c.2079G>C

1 paper

NM_015215.4

p.E693D

c.2079G>T

1 paper

NM_015215.4

p.S695S

c.2085G>A

1 paper

NM_015215.4

p.A697V

c.2090C>T

1 paper

NM_015215.4

p.A698G

c.2093C>G

1 paper

NM_015215.4

p.G700W

c.2098G>T

5 papers

NM_015215.4

p.S707C

c.2120C>G

1 paper

NM_015215.4

p.G708V

c.2123G>T

1 paper

NM_015215.4

p.M675fs

c.2023_2024fs

1 paper

NM_015215.4

p.L710L

c.2128C>T